Related gene-specific medical variations for Gene (Select 54937) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321429	NM_017826.3(SOHLH2):c.158C>T (p.Thr53Met)	CCDC169-SOHLH2, SOHLH2 (T130M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138794	NM_001198910.2(CCDC169-SOHLH2):c.907A>T (p.Thr303Ser)	CCDC169-SOHLH2, SOHLH2 (T226S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138793	NM_001198910.2(CCDC169-SOHLH2):c.841C>T (p.Leu281Phe)	CCDC169-SOHLH2, SOHLH2 (L281F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138792	NM_001198910.2(CCDC169-SOHLH2):c.828C>A (p.Asn276Lys)	CCDC169-SOHLH2, SOHLH2 (N199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138790	NM_001198910.2(CCDC169-SOHLH2):c.820G>A (p.Glu274Lys)	CCDC169-SOHLH2, SOHLH2 (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138789	NM_001198910.2(CCDC169-SOHLH2):c.782G>A (p.Gly261Asp)	CCDC169-SOHLH2, SOHLH2 (G261D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138788	NM_001198910.2(CCDC169-SOHLH2):c.503A>G (p.Lys168Arg)	CCDC169-SOHLH2, SOHLH2 (K168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138787	NM_001198910.2(CCDC169-SOHLH2):c.428A>G (p.Asn143Ser)	CCDC169-SOHLH2, SOHLH2 (N66S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138786	NM_001198910.2(CCDC169-SOHLH2):c.358A>G (p.Ile120Val)	CCDC169-SOHLH2, SOHLH2 (I120V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138785	NM_001198910.2(CCDC169-SOHLH2):c.319G>T (p.Gly107Cys)	CCDC169-SOHLH2, SOHLH2 (G30C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138784	NM_001198910.2(CCDC169-SOHLH2):c.1482C>A (p.Asn494Lys)	CCDC169-SOHLH2, SOHLH2 (N417K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138783	NM_001198910.2(CCDC169-SOHLH2):c.1435C>T (p.Arg479Trp)	CCDC169-SOHLH2, SOHLH2 (R479W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138782	NM_001198910.2(CCDC169-SOHLH2):c.1366G>C (p.Ala456Pro)	CCDC169-SOHLH2, SOHLH2 (A379P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138780	NM_001198910.2(CCDC169-SOHLH2):c.1357G>A (p.Asp453Asn)	CCDC169-SOHLH2, SOHLH2 (D453N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138779	NM_001198910.2(CCDC169-SOHLH2):c.1298C>G (p.Ala433Gly)	CCDC169-SOHLH2, SOHLH2 (A356G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138778	NM_001198910.2(CCDC169-SOHLH2):c.1280C>G (p.Thr427Ser)	CCDC169-SOHLH2, SOHLH2 (T350S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138777	NM_001198910.2(CCDC169-SOHLH2):c.1250C>T (p.Ser417Leu)	CCDC169-SOHLH2, SOHLH2 (S340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138776	NM_001198910.2(CCDC169-SOHLH2):c.1196C>T (p.Pro399Leu)	CCDC169-SOHLH2, SOHLH2 (P399L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138775	NM_001198910.2(CCDC169-SOHLH2):c.1174T>C (p.Cys392Arg)	CCDC169-SOHLH2, SOHLH2 (C392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138774	NM_001198910.2(CCDC169-SOHLH2):c.1172C>T (p.Thr391Met)	CCDC169-SOHLH2, SOHLH2 (T314M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138773	NM_001198910.2(CCDC169-SOHLH2):c.1141C>T (p.Pro381Ser)	CCDC169-SOHLH2, SOHLH2 (P304S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138772	NM_001198910.2(CCDC169-SOHLH2):c.1009G>A (p.Val337Ile)	CCDC169-SOHLH2, SOHLH2 (V260I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059526	NM_017826.3(SOHLH2):c.1015G>A (p.Ala339Thr)	CCDC169-SOHLH2, SOHLH2 (A339T +1 more)	Single nucleotide variant (missense variant)	SOHLH2-related disorder	GBenign
Select item 3057667	NM_017826.3(SOHLH2):c.165G>A (p.Glu55=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GLikely benign
Select item 3056894	NM_001198910.2(CCDC169-SOHLH2):c.1356C>T (p.Tyr452=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	CCDC169-SOHLH2-related disorder	GBenign
Select item 3051796	NM_001198910.2(CCDC169-SOHLH2):c.675C>T (p.Asn225=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 3044844	NM_001198910.2(CCDC169-SOHLH2):c.495-5C>T	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (intron variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 3039034	NM_017826.3(SOHLH2):c.1005A>G (p.Pro335=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GLikely benign
Select item 3038235	NM_001198910.2(CCDC169-SOHLH2):c.1436G>A (p.Arg479Gln)	CCDC169-SOHLH2, SOHLH2 (R402Q +1 more)	Single nucleotide variant (missense variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 3037787	NM_001198910.2(CCDC169-SOHLH2):c.335C>T (p.Thr112Ile)	CCDC169-SOHLH2, SOHLH2 (T112I +1 more)	Single nucleotide variant (missense variant)	CCDC169-SOHLH2-related disorder	GLikely benign
Select item 3037375	NM_017826.3(SOHLH2):c.492C>T (p.Ser164=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GBenign
Select item 3035330	NM_017826.3(SOHLH2):c.48+9C>A	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (intron variant)	SOHLH2-related disorder	GLikely benign
Select item 3035150	NM_017826.3(SOHLH2):c.906C>T (p.Tyr302=)	CCDC169-SOHLH2, SOHLH2	Single nucleotide variant (synonymous variant)	SOHLH2-related disorder	GLikely benign
Select item 3035065	NM_017826.3(SOHLH2):c.691G>A (p.Val231Ile)	CCDC169-SOHLH2, SOHLH2 (V231I +1 more)	Single nucleotide variant (missense variant)	SOHLH2-related disorder	GLikely benign
Select item 2551519	NM_001198910.2(CCDC169-SOHLH2):c.1298C>T (p.Ala433Val)	CCDC169-SOHLH2, SOHLH2 (A356V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308723	NM_001198910.2(CCDC169-SOHLH2):c.664A>G (p.Lys222Glu)	CCDC169-SOHLH2, SOHLH2 (K145E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 36