Related gene-specific medical variations for Gene (Select 84667) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284140	NM_001165967.2(HES7):c.521C>A (p.Pro174His)	HES7, LOC130060203 (P169H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284138	NM_001165967.2(HES7):c.578G>A (p.Gly193Asp)	HES7, LOC130060203 (G188D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284137	NM_001165967.2(HES7):c.425A>G (p.Asp142Gly)	HES7, LOC130060203 (D142G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284136	NM_001165967.2(HES7):c.503C>T (p.Pro168Leu)	HES7, LOC130060203 (P168L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255516	NM_001165967.2(HES7):c.113T>C (p.Leu38Pro)	HES7 (L38P)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GLikely pathogenic
Select item 3105519	NM_001165967.2(HES7):c.577G>A (p.Gly193Ser)	HES7, LOC130060203 (G188S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105518	NM_001165967.2(HES7):c.428C>G (p.Pro143Arg)	HES7, LOC130060203 (P138R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2963392	NM_001165967.2(HES7):c.681A>T (p.Arg227Ser)	HES7, LOC130060203 (R222S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2594639	NM_001165967.2(HES7):c.521C>T (p.Pro174Leu)	HES7, LOC130060203 (P169L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228035	NM_001165967.2(HES7):c.515G>C (p.Gly172Ala)	HES7, LOC130060203 (G172A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190396	NM_001165967.2(HES7):c.462C>T (p.Pro154=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180334	NM_001165967.2(HES7):c.460C>G (p.Pro154Ala)	HES7, LOC130060203 (P149A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092496	NM_001165967.2(HES7):c.583C>G (p.Pro195Ala)	HES7, LOC130060203 (P195A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984931	NM_001165967.2(HES7):c.466G>T (p.Ala156Ser)	HES7, LOC130060203 (A151S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984066	NM_001165967.2(HES7):c.424G>T (p.Asp142Tyr)	HES7, LOC130060203 (D142Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945841	NM_001165967.2(HES7):c.561G>C (p.Pro187=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933491	NM_001165967.2(HES7):c.557C>A (p.Ser186Tyr)	HES7, LOC130060203 (S186Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910656	NM_001165967.2(HES7):c.605T>C (p.Leu202Pro)	HES7, LOC130060203 (L202P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669617	NM_001165967.2(HES7):c.465C>T (p.Ala155=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646696	NM_001165967.2(HES7):c.525C>T (p.Ser175=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607264	NM_001165967.2(HES7):c.615A>G (p.Pro205=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1534314	NM_001165967.2(HES7):c.621G>A (p.Pro207=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532977	NM_001165967.2(HES7):c.579C>A (p.Gly193=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518644	NM_001165967.2(HES7):c.551T>C (p.Leu184Pro)	HES7, LOC130060203 (L184P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516945	NM_001165967.2(HES7):c.487C>G (p.Leu163Val)	HES7, LOC130060203 (L163V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515453	NM_001165967.2(HES7):c.682C>T (p.Pro228Ser)	HES7, LOC130060203 (P228S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502043	NM_001165967.2(HES7):c.637G>C (p.Gly213Arg)	HES7, LOC130060203 (G213R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501145	NM_001165967.2(HES7):c.596C>T (p.Thr199Ile)	HES7, LOC130060203 (T194I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1447965	NM_001165967.2(HES7):c.602TGC[3] (p.Leu202dup)	HES7, LOC130060203	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1445982	NM_001165967.2(HES7):c.438_461dup (p.Pro148_Ala155dup)	HES7, LOC130060203	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1445685	NM_001165967.2(HES7):c.614C>T (p.Pro205Leu)	HES7, LOC130060203 (P200L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432572	NM_001165967.2(HES7):c.417G>T (p.Lys139Asn)	HES7, LOC130060203 (K134N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1431967	NM_001165967.2(HES7):c.511C>A (p.Gln171Lys)	HES7, LOC130060203 (Q166K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362098	NM_001165967.2(HES7):c.566C>T (p.Ala189Val)	HES7, LOC130060203 (A184V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291988	NM_001165967.2(HES7):c.*81G>T	HES7, LOC130060203	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1239596	NM_001165967.2(HES7):c.*131G>T	HES7, LOC130060203	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1051206	NM_001165967.2(HES7):c.682C>G (p.Pro228Ala)	HES7, LOC130060203 (P223A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005073	NM_001165967.2(HES7):c.419C>G (p.Pro140Arg)	HES7, LOC130060203 (P135R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763355	NM_001165967.2(HES7):c.639G>A (p.Gly213=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752251	NM_001165967.2(HES7):c.618G>A (p.Pro206=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713831	NM_001165967.2(HES7):c.444G>A (p.Pro148=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593629	NM_001165967.2(HES7):c.*12T>G	HES7, LOC130060203	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 288808	NM_001165967.2(HES7):c.591C>T (p.Pro197=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 284614	NM_001165967.2(HES7):c.420G>A (p.Pro140=)	HES7, LOC130060203	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 30697	NM_001165967.2(HES7):c.571G>T (p.Asp191Tyr)	HES7, LOC130060203 (D186Y +1 more)	Single nucleotide variant (missense variant)	Spondylocostal dysostosis 4, autosomal recessive	GPathogenic

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Items: 45