C0265354[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031203	NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile)	SEMA3E (M635I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 529119	NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln)	SEMA3E (R546Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 836561	NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)	SEMA3E (Y331F +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GUncertain significance
Select item 949670	NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)	SEMA3E (H359D +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GUncertain significance
Select item 1028055	NM_017780.4(CHD7):c.247A>G (p.Met83Val)	CHD7 (M83V)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 560976	NM_017780.4(CHD7):c.282del (p.Asn96fs)	CHD7 (N96fs)	Deletion (frameshift variant)	CHARGE syndrome	GPathogenic
Select item 195321	NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)	CHD7 (R157*)	Single nucleotide variant (nonsense)	CHARGE syndrome +3 more	GPathogenic
Select item 620120	NM_017780.4(CHD7):c.511C>T (p.Gln171Ter)	CHD7 (Q171*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1032765	NM_017780.4(CHD7):c.519del (p.Pro174fs)	CHD7 (P174fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GPathogenic
Select item 2441920	NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)	CHD7 (L471S)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 1022947	NM_017780.4(CHD7):c.1554G>T (p.Gln518His)	CHD7 (Q518H)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032763	NM_017780.4(CHD7):c.1848del (p.Asp618fs)	CHD7, LOC126860403 (D618fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 560975	NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn)	CHD7, LOC126860403 (S699N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2441884	NM_017780.4(CHD7):c.2238G>C (p.Gln746His)	CHD7 (Q746H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 1703253	NM_017780.4(CHD7):c.2239-16T>A	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GConflicting classifications of pathogenicity
Select item 267420	NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)	CHD7 (Y835fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 267424	NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)	CHD7 (I1081F)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2582458	NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)	CHD7 (K1122fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 1028057	NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys)	CHD7 (Y1616C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 3237471	NM_017780.4(CHD7):c.4863G>A (p.Trp1621Ter)	CHD7 (W1621*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GPathogenic
Select item 2582649	NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)	CHD7 (C1643Y)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 2582383	NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)	CHD7 (L1647fs)	Indel (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 2442083	NM_017780.4(CHD7):c.5300+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE syndrome	GPathogenic
Select item 195978	NM_017780.4(CHD7):c.5405-17G>A	CHD7	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 547194	NM_017780.4(CHD7):c.5607+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1028058	NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala)	CHD7 (V1983A)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 488680	NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)	CHD7 (Q1990*)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GPathogenic
Select item 2582535	NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)	CHD7 (K2063fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 1028060	NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)	CHD7 (R2065C)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GLikely pathogenic
Select item 2582618	NM_017780.4(CHD7):c.6936+2T>C	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE syndrome	GPathogenic/Likely pathogenic
Select item 235889	NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)	CHD7 (R2319C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2582429	NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)	CHD7 (D2321V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 1028061	NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser)	CHD7 (N2419S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 418655	NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)	CHD7 (R2627* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 374318	NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg)	CHD7 (I2688R +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely pathogenic

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Items: 35