ClinVar for Gene (Select 10318) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3180370	NM_006058.5(TNIP1):c.974G>A (p.Arg325Gln)	TNIP1 (R272Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180369	NM_006058.5(TNIP1):c.797C>T (p.Ser266Leu)	TNIP1 (S213L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180368	NM_006058.5(TNIP1):c.550C>G (p.Leu184Val)	TNIP1 (L131V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180366	NM_006058.5(TNIP1):c.524C>T (p.Pro175Leu)	TNIP1 (P122L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180365	NM_006058.5(TNIP1):c.1757C>G (p.Pro586Arg)	TNIP1 (P533R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180364	NM_006058.5(TNIP1):c.1601G>A (p.Arg534His)	TNIP1 (R534H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180363	NM_006058.5(TNIP1):c.1445G>A (p.Arg482His)	TNIP1 (R429H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180361	NM_006058.5(TNIP1):c.1007C>T (p.Thr336Ile)	TNIP1 (T283I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655940	NM_006058.5(TNIP1):c.264G>A (p.Glu88=)	TNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608902	NM_006058.5(TNIP1):c.557G>A (p.Arg186His)	TNIP1 (R186H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603167	NM_006058.5(TNIP1):c.1433G>A (p.Ser478Asn)	TNIP1 (S425N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560254	NM_006058.5(TNIP1):c.1810G>T (p.Gly604Trp)	TNIP1 (E609D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539295	NM_006058.5(TNIP1):c.463G>A (p.Gly155Ser)	TNIP1 (G102S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525707	NM_006058.5(TNIP1):c.884C>T (p.Ala295Val)	TNIP1 (A242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524317	NM_006058.5(TNIP1):c.545C>A (p.Thr182Asn)	TNIP1 (T182N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512913	NM_006058.5(TNIP1):c.101G>A (p.Arg34Gln)	TNIP1 (R34Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493891	NM_006058.5(TNIP1):c.1253G>A (p.Arg418Gln)	TNIP1 (R365Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491830	NM_006058.5(TNIP1):c.1607A>G (p.His536Arg)	TNIP1 (H536R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473145	NM_006058.5(TNIP1):c.1170G>T (p.Glu390Asp)	TNIP1 (E337D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469030	NM_006058.5(TNIP1):c.1361A>G (p.Glu454Gly)	TNIP1 (E401G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405132	NM_006058.5(TNIP1):c.206A>G (p.Asp69Gly)	TNIP1 (D69G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389722	NM_006058.5(TNIP1):c.276G>T (p.Lys92Asn)	TNIP1 (K92N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378826	NM_006058.5(TNIP1):c.1295C>T (p.Pro432Leu)	TNIP1 (P432L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369386	NM_006058.5(TNIP1):c.1067G>A (p.Arg356Gln)	TNIP1 (R303Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316262	NM_006058.5(TNIP1):c.824A>C (p.Lys275Thr)	TNIP1 (K222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296813	NM_006058.5(TNIP1):c.454C>T (p.Arg152Cys)	TNIP1 (R99C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268943	NM_006058.5(TNIP1):c.1219C>G (p.Arg407Gly)	TNIP1 (R354G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262454	NM_006058.5(TNIP1):c.1903C>A (p.Pro635Thr)	TNIP1 (P582T +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2241121	NM_006058.5(TNIP1):c.877G>A (p.Val293Met)	TNIP1 (V293M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222545	NM_006058.5(TNIP1):c.1711C>T (p.Arg571Cys)	TNIP1 (R518C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221920	NM_006058.5(TNIP1):c.1078C>G (p.Gln360Glu)	TNIP1 (Q307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1244000	NM_006058.5(TNIP1):c.451C>G (p.Pro151Ala)	TNIP1 (P151A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 981029	NM_006058.5(TNIP1):c.437C>T (p.Ala146Val)	TNIP1 (A146V +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 778221	NM_006058.5(TNIP1):c.779C>T (p.Ala260Val)	TNIP1 (A260V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775226	NM_006058.5(TNIP1):c.1746G>A (p.Pro582=)	TNIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 732954	NM_006058.5(TNIP1):c.1658C>T (p.Pro553Leu)	TNIP1 (P500L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 729998	NM_006058.5(TNIP1):c.649A>G (p.Lys217Glu)	TNIP1 (K217E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723401	NM_006058.5(TNIP1):c.438G>A (p.Ala146=)	TNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ADRB2, AFAP1L1 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 49