ClinVar for MedGen (Select 237587) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456391.	NM_001080476.3(GRXCR1):c.668T>A (p.Leu223Gln) GRCh37: Chr4:43022411 GRCh38: Chr4:43020394	GRXCR1	L223Q	Autosomal recessive nonsyndromic hearing loss 25	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24440022.	NM_001080476.3(GRXCR1):c.457T>G (p.Phe153Val) GRCh37: Chr4:42964981 GRCh38: Chr4:42962964	GRXCR1	F153V	Autosomal recessive nonsyndromic hearing loss 25	Pathogenic (Jan 1, 2023)	no assertion criteria provided
Select item 16993403.	NM_001080476.3(GRXCR1):c.550G>T (p.Glu184Ter) GRCh37: Chr4:42965074 GRCh38: Chr4:42963057	GRXCR1	E184*	Autosomal recessive nonsyndromic hearing loss 25	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 9878294.	NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) GRCh37: Chr4:42964993 GRCh38: Chr4:42962976	GRXCR1	E157*	not provided, Autosomal recessive nonsyndromic hearing loss 25	Pathogenic/Likely pathogenic (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9028135.	NM_001080476.3(GRXCR1):c.*65A>G GRCh37: Chr4:43032622 GRCh38: Chr4:43030605	GRXCR1		Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9028126.	NM_001080476.3(GRXCR1):c.*6G>T GRCh37: Chr4:43032563 GRCh38: Chr4:43030546	GRXCR1		Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 9013547.	NM_001080476.3(GRXCR1):c.325G>A (p.Val109Ile) GRCh37: Chr4:42895608 GRCh38: Chr4:42893591	GRXCR1	V109I	not provided, Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8727438.	NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter) GRCh37: Chr4:42895362 GRCh38: Chr4:42893345	GRXCR1	R27*	Autosomal recessive nonsyndromic hearing loss 25, not provided	Pathogenic/Likely pathogenic (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6324419.	NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys) GRCh37: Chr4:42964963 GRCh38: Chr4:42962946	GRXCR1	R147C	Autosomal recessive nonsyndromic hearing loss 25, Hearing impairment	Conflicting interpretations of pathogenicity (Apr 12, 2021)	criteria provided, conflicting interpretations
Select item 52242610.	NM_001080476.3(GRXCR1):c.385-2A>G GRCh37: Chr4:42964907 GRCh38: Chr4:42962890	GRXCR1		Autosomal recessive nonsyndromic hearing loss 25	Pathogenic (Sep 18, 2017)	no assertion criteria provided
Select item 34882811.	NM_001080476.3(GRXCR1):c.*89G>A GRCh37: Chr4:43032646 GRCh38: Chr4:43030629	GRXCR1		Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34882712.	NM_001080476.3(GRXCR1):c.*69T>A GRCh37: Chr4:43032626 GRCh38: Chr4:43030609	GRXCR1		Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34882613.	NM_001080476.3(GRXCR1):c.*55G>A GRCh37: Chr4:43032612 GRCh38: Chr4:43030595	GRXCR1		not provided, Autosomal recessive nonsyndromic hearing loss 25	Benign (Jun 24, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34882514.	NM_001080476.3(GRXCR1):c.858G>T (p.Lys286Asn) GRCh37: Chr4:43032542 GRCh38: Chr4:43030525	GRXCR1	K286N	Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34882315.	NM_001080476.3(GRXCR1):c.745C>G (p.Pro249Ala) GRCh37: Chr4:43032429 GRCh38: Chr4:43030412	GRXCR1	P249A	Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34882216.	NM_001080476.3(GRXCR1):c.604T>C (p.Phe202Leu) GRCh37: Chr4:42965128 GRCh38: Chr4:42963111	GRXCR1	F202L	Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34882117.	NM_001080476.3(GRXCR1):c.551A>T (p.Glu184Val) GRCh37: Chr4:42965075 GRCh38: Chr4:42963058	GRXCR1	E184V	not provided, Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34882018.	NM_001080476.3(GRXCR1):c.385-7C>T GRCh37: Chr4:42964902 GRCh38: Chr4:42962885	GRXCR1		Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34881919.	NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu) GRCh37: Chr4:42895641 GRCh38: Chr4:42893624	GRXCR1	F120L	Autosomal recessive nonsyndromic hearing loss 25, not specified	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34881820.	NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His) GRCh37: Chr4:42895614 GRCh38: Chr4:42893597	GRXCR1	Y111H	Autosomal recessive nonsyndromic hearing loss 25, not specified, not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34881721.	NM_001080476.3(GRXCR1):c.289G>A (p.Val97Ile) GRCh37: Chr4:42895572 GRCh38: Chr4:42893555	GRXCR1	V97I	Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34881622.	NM_001080476.3(GRXCR1):c.284G>C (p.Arg95Thr) GRCh37: Chr4:42895567 GRCh38: Chr4:42893550	GRXCR1	R95T	Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34881523.	NM_001080476.3(GRXCR1):c.236G>A (p.Ser79Asn) GRCh37: Chr4:42895519 GRCh38: Chr4:42893502	GRXCR1	S79N	Autosomal recessive nonsyndromic hearing loss 25	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34881424.	NM_001080476.3(GRXCR1):c.49C>T (p.Arg17Trp) GRCh37: Chr4:42895332 GRCh38: Chr4:42893315	GRXCR1	R17W	Autosomal recessive nonsyndromic hearing loss 25, Inborn genetic diseases, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22873425.	NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln) GRCh37: Chr4:43032469 GRCh38: Chr4:43030452	GRXCR1	R262Q	not provided, Autosomal recessive nonsyndromic hearing loss 25, not specified	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 17837926.	NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) GRCh37: Chr4:42895555 GRCh38: Chr4:42893538	GRXCR1	G91V	Autosomal recessive nonsyndromic hearing loss 25, not specified, not provided	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4388927.	NM_001080476.3(GRXCR1):c.777C>T (p.Ser259=) GRCh37: Chr4:43032461 GRCh38: Chr4:43030444	GRXCR1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 25	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4388828.	NM_001080476.3(GRXCR1):c.627+8A>C GRCh37: Chr4:42965159 GRCh38: Chr4:42963142	GRXCR1		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 25	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4388729.	NM_001080476.3(GRXCR1):c.25G>A (p.Glu9Lys) GRCh37: Chr4:42895308 GRCh38: Chr4:42893291	GRXCR1	E9K	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 25	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4388630.	NM_001080476.3(GRXCR1):c.140C>T (p.Ala47Val) GRCh37: Chr4:42895423 GRCh38: Chr4:42893406	GRXCR1	A47V	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 25	Benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19631.	NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys) GRCh37: Chr4:42964936 GRCh38: Chr4:42962919	GRXCR1	R138C	not provided	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 19532.	NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter) GRCh37: Chr4:42895512 GRCh38: Chr4:42893495	GRXCR1	Q77*	Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 25	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 19433.	NM_001080476.3(GRXCR1):c.627+19A>T GRCh37: Chr4:42965170 GRCh38: Chr4:42963153	GRXCR1		not provided	Uncertain significance (Dec 2, 2022)	criteria provided, single submitter
Select item 19334.	NM_001080476.3(GRXCR1):c.628-9C>A GRCh37: Chr4:43022362 GRCh38: Chr4:43020345	GRXCR1		not provided	Pathogenic (Aug 3, 2022)	criteria provided, single submitter

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Items: 34