ClinVar for MedGen (Select 237587) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445639	NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln)	GRXCR1 (L223Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GLikely pathogenic
Select item 2444002	NM_001080476.3(GRXCR1):c.457T>G (p.Phe153Val)	GRXCR1 (F153V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GPathogenic
Select item 1699340	NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter)	GRXCR1 (E184*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 25	GPathogenic
Select item 987829	NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)	GRXCR1 (E157*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 902813	NM_001080476.3(GRXCR1):c.*65A>G	GRXCR1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 902812	NM_001080476.3(GRXCR1):c.*6G>T	GRXCR1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 901354	NM_001080476.3(GRXCR1):c.325G>A (p.Val109Ile)	GRXCR1 (V109I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +1 more	GUncertain significance
Select item 872743	NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter)	GRXCR1 (R27*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 25 +1 more	GPathogenic/Likely pathogenic
Select item 632441	NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys)	GRXCR1 (R147C)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GConflicting classifications of pathogenicity
Select item 522426	NM_001080476.3(GRXCR1):c.385-2A>G	GRXCR1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 25	GPathogenic
Select item 348828	NM_001080476.3(GRXCR1):c.*89G>A	GRXCR1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 348827	NM_001080476.3(GRXCR1):c.*69T>A	GRXCR1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348826	NM_001080476.3(GRXCR1):c.*55G>A	GRXCR1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348825	NM_001080476.3(GRXCR1):c.858G>T (p.Lys286Asn)	GRXCR1 (K286N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348823	NM_001080476.3(GRXCR1):c.745C>G (p.Pro249Ala)	GRXCR1 (P249A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348822	NM_001080476.3(GRXCR1):c.604T>C (p.Phe202Leu)	GRXCR1 (F202L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348821	NM_001080476.3(GRXCR1):c.551A>T (p.Glu184Val)	GRXCR1 (E184V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 348820	NM_001080476.3(GRXCR1):c.385-7C>T	GRXCR1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348819	NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu)	GRXCR1 (F120L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +1 more	GUncertain significance
Select item 348818	NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His)	GRXCR1 (Y111H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 348817	NM_001080476.3(GRXCR1):c.289G>A (p.Val97Ile)	GRXCR1 (V97I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348816	NM_001080476.3(GRXCR1):c.284G>C (p.Arg95Thr)	GRXCR1 (R95T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348815	NM_001080476.3(GRXCR1):c.236G>A (p.Ser79Asn)	GRXCR1 (S79N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25	GUncertain significance
Select item 348814	NM_001080476.3(GRXCR1):c.49C>T (p.Arg17Trp)	GRXCR1 (R17W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 228734	NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln)	GRXCR1 (R262Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178379	NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)	GRXCR1 (G91V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 43889	NM_001080476.3(GRXCR1):c.777C>T (p.Ser259=)	GRXCR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 43888	NM_001080476.3(GRXCR1):c.627+8A>C	GRXCR1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 25 +2 more	GBenign
Select item 43887	NM_001080476.3(GRXCR1):c.25G>A (p.Glu9Lys)	GRXCR1 (E9K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 25 +2 more	GBenign
Select item 43886	NM_001080476.3(GRXCR1):c.140C>T (p.Ala47Val)	GRXCR1 (A47V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 196	NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys)	GRXCR1 (R138C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195	NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter)	GRXCR1 (Q77*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 194	NM_001080476.3(GRXCR1):c.627+19A>T	GRXCR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 193	NM_001080476.3(GRXCR1):c.628-9C>A	GRXCR1	Single nucleotide variant (intron variant)	not provided	GPathogenic

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Items: 34