GPR161[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 1710974	NM_001375883.1(GPR161):c.1559A>G (p.Glu520Gly)	GPR161 (E388G +5 more)	Single nucleotide variant (missense variant)	Predisposition to medulloblastoma	GUncertain significance
Select item 2700274	NM_001375883.1(GPR161):c.1518A>T (p.Arg506Ser)	GPR161 (R392S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691532	NM_001375883.1(GPR161):c.1502del (p.Gly501fs)	GPR161 (G369fs +5 more)	Deletion (frameshift variant)	Medulloblastoma	GUncertain significance
Select item 788082	NM_001375883.1(GPR161):c.1491C>T (p.Gly497=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056216	NM_001375883.1(GPR161):c.1490G>A (p.Gly497Asp)	GPR161 (G365D +5 more)	Single nucleotide variant (missense variant)	GPR161-related condition	GLikely benign
Select item 2545711	NM_001375883.1(GPR161):c.1469C>T (p.Thr490Ile)	GPR161 (T510I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711120	NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)	GPR161 (E350A +5 more)	Single nucleotide variant (missense variant)	Medulloblastoma	GUncertain significance
Select item 789948	NM_001375883.1(GPR161):c.1413G>A (p.Glu471=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737015	NM_001375883.1(GPR161):c.1410T>C (p.Ile470=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256982	NM_001375883.1(GPR161):c.1409T>C (p.Ile470Thr)	GPR161 (I338T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788083	NM_001375883.1(GPR161):c.1396T>C (p.Leu466=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2320534	NM_001375883.1(GPR161):c.1265C>T (p.Thr422Ile)	GPR161 (T439I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577854	NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)	GPR161 (T280M +5 more)	Single nucleotide variant (missense variant)	Medulloblastoma	GUncertain significance
Select item 1711121	NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)	GPR161 (Y279H +5 more)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 2326024	NM_001375883.1(GPR161):c.1212T>A (p.Asp404Glu)	GPR161 (D272E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691508	NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg)	GPR161 (Q267R +5 more)	Single nucleotide variant (missense variant)	Medulloblastoma	GUncertain significance
Select item 2784838	NM_001375883.1(GPR161):c.1140T>C (p.Gly380=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2703855	NM_001375883.1(GPR161):c.1106G>A (p.Gly369Asp)	GPR161 (G369D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708663	NM_001375883.1(GPR161):c.1099+14T>A	GPR161	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748729	NM_001375883.1(GPR161):c.1077C>T (p.Phe359=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514542	NM_001375883.1(GPR161):c.1048G>T (p.Val350Leu)	GPR161 (V272L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338236	NM_001375883.1(GPR161):c.947G>T (p.Ser316Ile)	GPR161 (S202I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2710234	NM_001375883.1(GPR161):c.905C>T (p.Ser302Phe)	GPR161 (S170F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743752	NM_001375883.1(GPR161):c.885C>G (p.Leu295=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2346241	NM_001375883.1(GPR161):c.838A>C (p.Met280Leu)	GPR161 (M202L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791822	NM_001375883.1(GPR161):c.828C>T (p.Leu276=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2307276	NM_001375883.1(GPR161):c.764C>T (p.Ala255Val)	GPR161 (A177V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272232	NM_001375883.1(GPR161):c.758G>A (p.Arg253Lys)	GPR161 (R175K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444888	NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)	GPR161 (G106A +5 more)	Single nucleotide variant (missense variant)	Medulloblastoma	GUncertain significance
Select item 2639531	NM_001375883.1(GPR161):c.712G>A (p.Gly238Arg)	GPR161 (G106R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1675392	NM_001375883.1(GPR161):c.695A>G (p.Glu232Gly)	GPR161 (E100G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699979	NM_001375883.1(GPR161):c.682G>A (p.Val228Ile)	GPR161 (V96I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711122	NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)	GPR161 (V114F +5 more)	Single nucleotide variant (missense variant)	Medulloblastoma	GUncertain significance
Select item 2639532	NM_001375883.1(GPR161):c.660C>G (p.Arg220=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513722	NM_001375883.1(GPR161):c.638G>A (p.Arg213His)	GPR161 (R230H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767725	NM_001375883.1(GPR161):c.594C>T (p.Leu198=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2663996	NM_001375883.1(GPR161):c.505G>A (p.Val169Met)	GPR161 (V169M +5 more)	Single nucleotide variant (missense variant)	Medulloblastoma	GUncertain significance
Select item 1710300	NM_001375883.1(GPR161):c.487_488del (p.Leu163fs)	GPR161 (L163fs +5 more)	Deletion (frameshift variant)	Medulloblastoma	GPathogenic
Select item 780788	NM_001375883.1(GPR161):c.486C>T (p.Pro162=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2713787	NM_001375883.1(GPR161):c.471C>T (p.Ile157=)	GPR161	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725265	NM_001375883.1(GPR161):c.384T>C (p.Ala128=)	GPR161	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2597786	NM_001375883.1(GPR161):c.268C>T (p.Arg90Cys)	GPR161 (R90C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228215	NM_001375883.1(GPR161):c.257C>T (p.Thr86Met)	GPR161 (T106M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789695	NM_001375883.1(GPR161):c.243G>C (p.Leu81=)	GPR161	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2545987	NM_001375883.1(GPR161):c.239T>C (p.Val80Ala)	GPR161 (V80A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277306	NM_001375883.1(GPR161):c.196G>A (p.Val66Ile)	GPR161 (V83I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 734108	NM_001375883.1(GPR161):c.75C>T (p.Gly25=)	GPR161	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780789	NM_001375883.1(GPR161):c.66C>T (p.Gly22=)	GPR161	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 180652	NM_001375883.1(GPR161):c.-5T>A	GPR161 (L19Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2700980	NM_001375883.1(GPR161):c.-14G>A	GPR161 (R16Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 780790	NM_001375883.1(GPR161):c.-42G>A	GPR161 (V7I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2975916	NM_001375883.1(GPR161):c.-44-13C>T	GPR161	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1299941	NM_001375883.1(GPR161):c.-45+481A>T	GPR161 (S47C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 252576	NM_001375883.1(GPR161):c.-45+395dup	GPR161 (G19fs)	Duplication (5 prime UTR variant +2 more)	not specified	GBenign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2427631	NC_000001.10:g.(?_167400918)_(168282240_?)dup	ADCY10, CD247 +9 more	Duplication	Immunodeficiency 25	GUncertain significance
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1340498	GRCh37/hg19 1q24.2(chr1:167741130-168188082)x1	ADCY10, DCAF6 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic

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Items: 74