TNIP1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 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
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
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 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 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 3327566	NM_006058.5(TNIP1):c.1753C>T (p.Leu585Phe)	TNIP1 (L585F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 3327559	NM_006058.5(TNIP1):c.1698C>G (p.Asp566Glu)	TNIP1 (D566E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 3327563	NM_006058.5(TNIP1):c.1097A>G (p.Lys366Arg)	TNIP1 (K313R +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 778221	NM_006058.5(TNIP1):c.779C>T (p.Ala260Val)	TNIP1 (A260V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 1244000	NM_006058.5(TNIP1):c.451C>G (p.Pro151Ala)	TNIP1 (P151A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723401	NM_006058.5(TNIP1):c.438G>A (p.Ala146=)	TNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981029	NM_006058.5(TNIP1):c.437C>T (p.Ala146Val)	TNIP1 (A146V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3327565	NM_006058.5(TNIP1):c.430G>C (p.Ala144Pro)	TNIP1 (A91P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327558	NM_006058.5(TNIP1):c.393G>C (p.Glu131Asp)	TNIP1 (E131D +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 2655940	NM_006058.5(TNIP1):c.264G>A (p.Glu88=)	TNIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3327562	NM_006058.5(TNIP1):c.167C>T (p.Ala56Val)	TNIP1 (A3V +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 3327560	NM_006058.5(TNIP1):c.100C>G (p.Arg34Gly)	TNIP1 (R34G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327561	NM_006058.5(TNIP1):c.64T>G (p.Ser22Ala)	TNIP1 (S22A)	Single nucleotide variant (missense variant +1 more)	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 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +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

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Items: 57