ClinVar for MedGen (Select 237587) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

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*	not provided, Autosomal recessive nonsyndromic hearing loss 25	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	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 25	Benign/Likely benign (Oct 31, 2022)	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

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 34