KRR1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 153539	GRCh38/hg38 12q21.1-21.2(chr12:75019031-75720674)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 144519	GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2499648	GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)	CAPS2, GLIPR1 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 784249	NM_006851.3(GLIPR1):c.534-5T>C	GLIPR1, KRR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2381594	NM_006851.3(GLIPR1):c.547A>G (p.Thr183Ala)	GLIPR1, KRR1 (T183A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623451	NM_006851.3(GLIPR1):c.557A>G (p.Tyr186Cys)	GLIPR1, KRR1 (Y186C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384080	NM_006851.3(GLIPR1):c.600G>C (p.Lys200Asn)	GLIPR1, KRR1 (K200N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333384	NM_006851.3(GLIPR1):c.689G>C (p.Arg230Pro)	GLIPR1, KRR1 (R230P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312049	NM_006851.3(GLIPR1):c.716T>C (p.Ile239Thr)	GLIPR1, KRR1 (I239T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555829	NM_006851.3(GLIPR1):c.748A>G (p.Ile250Val)	GLIPR1, KRR1 (I250V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528736	NM_007043.7(KRR1):c.1073T>C (p.Leu358Pro)	GLIPR1, KRR1 (L358P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2475399	NM_007043.7(KRR1):c.932G>T (p.Ser311Ile)	GLIPR1, KRR1 (S311I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2475725	NM_007043.7(KRR1):c.911C>A (p.Ala304Asp)	GLIPR1, KRR1 (A304D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2371622	NM_007043.7(KRR1):c.904A>G (p.Ile302Val)	GLIPR1, KRR1 (I302V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2371786	NM_007043.7(KRR1):c.902C>T (p.Ala301Val)	GLIPR1, KRR1 (A301V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3116295	NM_007043.7(KRR1):c.887G>A (p.Arg296Gln)	GLIPR1, KRR1 (R296Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2297797	NM_007043.7(KRR1):c.847G>A (p.Ala283Thr)	GLIPR1, KRR1 (A283T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2624182	NM_007043.7(KRR1):c.578T>C (p.Ile193Thr)	KRR1 (I193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494065	NM_007043.7(KRR1):c.481A>G (p.Arg161Gly)	KRR1 (R161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2858650	NM_007043.7(KRR1):c.394-15_394-8dup	KRR1	Duplication (intron variant)	not provided	GLikely benign
Select item 2643183	NM_007043.7(KRR1):c.394-18_394-8dup	KRR1	Duplication (intron variant)	not provided	GLikely benign
Select item 2792650	NM_007043.7(KRR1):c.394-8del	KRR1	Deletion (intron variant)	not provided	GBenign
Select item 2329912	NM_007043.7(KRR1):c.286G>A (p.Glu96Lys)	KRR1 (E96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116292	NM_007043.7(KRR1):c.116G>T (p.Gly39Val)	KRR1 (G39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509695	NM_007043.7(KRR1):c.104C>T (p.Thr35Met)	KRR1 (T35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305397	NM_007043.7(KRR1):c.65A>G (p.Lys22Arg)	KRR1 (K22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263438	NM_007043.7(KRR1):c.38C>T (p.Ala13Val)	KRR1 (A13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361397	NM_007043.7(KRR1):c.19G>C (p.Glu7Gln)	KRR1 (E7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116291	NM_007043.7(KRR1):c.10C>G (p.Pro4Ala)	KRR1 (P4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216990	NM_007043.7(KRR1):c.10C>T (p.Pro4Ser)	KRR1 (P4S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116293	NM_007043.7(KRR1):c.4G>C (p.Ala2Pro)	KRR1 (A2P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 1808753	GRCh37/hg19 12q21.1-21.2(chr12:75417920-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527713	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)	CAPS2, GLIPR1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1341251	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 563957	GRCh37/hg19 12q21.1-21.2(chr12:75417919-76110508)x3	GLIPR1, GLIPR1L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 45