ClinVar for Gene (Select 283337) - ClinVar

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

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286874	NM_000889.3(ITGB7):c.2144G>A (p.Arg715Lys)	ITGB7, ZNF740 (R683K +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3286873	NM_000889.3(ITGB7):c.1735C>T (p.Arg579Cys)	ITGB7, ZNF740 (R422C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3286871	NM_000889.3(ITGB7):c.1295G>C (p.Arg432Pro)	ITGB7, ZNF740 (R400P +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3286870	NM_000889.3(ITGB7):c.2284G>C (p.Glu762Gln)	ITGB7, ZNF740 (E614Q +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3286869	NM_000889.3(ITGB7):c.2266C>T (p.Arg756Trp)	ITGB7, ZNF740 (R608W +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3286868	NM_000889.3(ITGB7):c.2171C>T (p.Thr724Met)	ITGB7, ZNF740 (T567M +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3286867	NM_000889.3(ITGB7):c.1318T>G (p.Trp440Gly)	ITGB7, ZNF740 (W283G +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3198078	NM_001004304.4(ZNF740):c.559T>G (p.Ser187Ala)	ZNF740 (S187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111516	NM_000889.3(ITGB7):c.2278C>T (p.Arg760Cys)	ITGB7, ZNF740 (R612C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3111514	NM_000889.3(ITGB7):c.2246C>T (p.Ser749Leu)	ITGB7, ZNF740 (S592L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3111513	NM_000889.3(ITGB7):c.1853G>A (p.Arg618His)	ITGB7, ZNF740 (R461H +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3111512	NM_000889.3(ITGB7):c.1703G>A (p.Arg568Gln)	ITGB7, ZNF740 (R536Q +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3111510	NM_000889.3(ITGB7):c.1604C>T (p.Pro535Leu)	ITGB7, ZNF740 (P503L +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3111509	NM_000889.3(ITGB7):c.1442C>A (p.Thr481Asn)	ITGB7, ZNF740 (T324N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063260	GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3	AAAS, AMHR2 +19 more	Copy number gain	not specified	GUncertain significance
Select item 2684673	GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3	AAAS, AMHR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2617047	NM_000889.3(ITGB7):c.2310G>T (p.Trp770Cys)	ITGB7, ZNF740 (W622C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2553299	NM_000889.3(ITGB7):c.1526G>A (p.Arg509Gln)	ITGB7, ZNF740 (R477Q +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2547031	NM_000889.3(ITGB7):c.1483C>A (p.Leu495Ile)	ITGB7, ZNF740 (L495I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2530209	NM_000889.3(ITGB7):c.2026A>C (p.Thr676Pro)	ITGB7, ZNF740 (T528P +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2492311	NM_000889.3(ITGB7):c.2228T>C (p.Val743Ala)	ITGB7, ZNF740 (V595A +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455201	NM_000889.3(ITGB7):c.1640G>A (p.Arg547His)	ITGB7, ZNF740 (R515H +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2369602	NM_000889.3(ITGB7):c.1936G>A (p.Glu646Lys)	ITGB7, ZNF740 (E614K +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2342413	NM_001004304.4(ZNF740):c.71A>C (p.Lys24Thr)	ZNF740 (K24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327359	NM_000889.3(ITGB7):c.2006C>G (p.Ala669Gly)	ITGB7, ZNF740 (A637G +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2295760	NM_001004304.4(ZNF740):c.104A>C (p.Gln35Pro)	ZNF740 (Q35P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287729	NM_000889.3(ITGB7):c.2319C>G (p.Asp773Glu)	ITGB7, ZNF740 (D741E +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2283092	NM_001004304.4(ZNF740):c.223T>C (p.Ser75Pro)	ZNF740 (S75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268117	NM_000889.3(ITGB7):c.1744T>C (p.Cys582Arg)	ITGB7, ZNF740 (C425R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2262651	NM_000889.3(ITGB7):c.1295G>A (p.Arg432Gln)	ITGB7, ZNF740 (R432Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2226470	NM_000889.3(ITGB7):c.2240G>A (p.Arg747Gln)	ITGB7, ZNF740 (R599Q +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2224733	NM_000889.3(ITGB7):c.1583G>A (p.Arg528Gln)	ITGB7, ZNF740 (R528Q +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 791425	NM_000889.3(ITGB7):c.2014C>T (p.His672Tyr)	ITGB7, ZNF740 (H672Y +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 771458	NM_000889.3(ITGB7):c.1885G>A (p.Gly629Ser)	ITGB7, ZNF740 (G629S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 725617	NM_000889.3(ITGB7):c.1902A>G (p.Leu634=)	ITGB7, ZNF740	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 714539	NM_000889.3(ITGB7):c.1408T>C (p.Leu470=)	ITGB7, ZNF740	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 708809	NM_000889.3(ITGB7):c.1398G>C (p.Leu466=)	ITGB7, ZNF740	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 707897	NM_000889.3(ITGB7):c.1995C>T (p.Asn665=)	ITGB7, ZNF740	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	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: 48