Related gene-specific medical variations for Gene (Select 283337) - ClinVar

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Items: 32

	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 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 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 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 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 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 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

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Links from Gene

Items: 32