4647[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 148003	GRCh38/hg38 11q13.5(chr11:77104062-77324724)x1	CAPN5, GDPD4 +2 more	Copy number loss	See cases	GUncertain significance
Select item 306146	NM_000260.4(MYO7A):c.-211A>G	MYO7A	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GConflicting classifications of pathogenicity
Select item 306147	NM_000260.4(MYO7A):c.-196C>T	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 306148	NM_000260.4(MYO7A):c.-170C>T	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 306149	NM_000260.4(MYO7A):c.-160G>A	MYO7A	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +2 more	GUncertain significance
Select item 306150	NM_000260.4(MYO7A):c.-154G>A	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 884039	NM_000260.4(MYO7A):c.-52C>G	MYO7A	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 11 +2 more	GUncertain significance
Select item 1215568	NM_000260.4(MYO7A):c.-46-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 306151	NM_000260.4(MYO7A):c.-20G>A	MYO7A	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 179567	NM_000260.4(MYO7A):c.1A>G (p.Met1Val)	MYO7A (M1V)	Single nucleotide variant (missense variant +2 more)	Usher syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 553231	NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)	MYO7A (M1I)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 2 +3 more	GPathogenic/Likely pathogenic
Select item 936103	NM_000260.4(MYO7A):c.13C>T (p.Gln5Ter)	MYO7A (Q5*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2711287	NM_000260.4(MYO7A):c.18+1G>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2827733	NM_000260.4(MYO7A):c.18+2T>C	MYO7A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 558377	NM_000260.4(MYO7A):c.18+2T>A	MYO7A	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 2979564	NM_000260.4(MYO7A):c.18+7G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993831	NM_000260.4(MYO7A):c.18+15C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3338135	NM_000260.4(MYO7A):c.19-5700G>A	MYO7A	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 677340	NM_000260.4(MYO7A):c.19-34G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975089	NM_000260.4(MYO7A):c.19-17C>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178068	NM_000260.4(MYO7A):c.19-17CT[3]	MYO7A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1585118	NM_000260.4(MYO7A):c.19-17C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885687	NM_000260.4(MYO7A):c.19-15C>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1591399	NM_000260.4(MYO7A):c.19-13C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 998593	NM_000260.4(MYO7A):c.19-9C>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 748880	NM_000260.4(MYO7A):c.19-9C>T	MYO7A	Single nucleotide variant (intron variant)	Usher syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1604098	NM_000260.4(MYO7A):c.19-8G>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1101920	NM_000260.4(MYO7A):c.19-8G>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728593	NM_000260.4(MYO7A):c.19-8G>A	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1142696	NM_000260.4(MYO7A):c.19-7C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1086301	NM_000260.4(MYO7A):c.19-5del	MYO7A	Deletion (intron variant)	not provided	GLikely benign
Select item 1638293	NM_000260.4(MYO7A):c.19-5C>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916522	NM_000260.4(MYO7A):c.19-4A>G	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 751496	NM_000260.4(MYO7A):c.19-4A>T	MYO7A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 964718	NM_000260.4(MYO7A):c.19-3T>C	MYO7A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 558668	NM_000260.4(MYO7A):c.19-2A>G	MYO7A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +1 more	GPathogenic
Select item 438174	NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs)	MYO7A	Duplication	Usher syndrome	GLikely pathogenic
Select item 43163	NM_000260.4(MYO7A):c.19-1G>A	MYO7A	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +3 more	GLikely pathogenic
Select item 1916542	NM_000260.4(MYO7A):c.19G>C (p.Gly7Arg)	MYO7A (G7R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 802700	NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)	MYO7A (G7R)	Single nucleotide variant (missense variant +1 more)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 562084	NM_000260.4(MYO7A):c.20G>T (p.Gly7Val)	MYO7A (G7V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2825709	NM_000260.4(MYO7A):c.24C>T (p.Asp8=)	MYO7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2732409	NM_000260.4(MYO7A):c.27T>C (p.His9=)	MYO7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 242393	NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)	MYO7A (V10A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2043826	NM_000260.4(MYO7A):c.30G>A (p.Val10=)	MYO7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 984274	NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter)	MYO7A (W11*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1	GLikely pathogenic
Select item 984275	NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter)	MYO7A (W11*)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1	GLikely pathogenic
Select item 1411925	NM_000260.4(MYO7A):c.35T>C (p.Met12Thr)	MYO7A (M12T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 862969	NM_000260.4(MYO7A):c.37G>C (p.Asp13His)	MYO7A (D2H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532965	NM_000260.4(MYO7A):c.39C>T (p.Asp13=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196240	NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)	MYO7A (D13E +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1138476	NM_000260.4(MYO7A):c.42G>A (p.Leu14=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503074	NM_000260.4(MYO7A):c.44_51dup (p.Gln18fs)	MYO7A (Q18fs +1 more)	Duplication (frameshift variant)	Usher syndrome	GPathogenic
Select item 965682	NM_000260.4(MYO7A):c.44G>T (p.Arg15Ile)	MYO7A (R15I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1125346	NM_000260.4(MYO7A):c.46T>C (p.Leu16=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964588	NM_000260.4(MYO7A):c.47_48delinsCT (p.Leu16Ser)	MYO7A (L5S +1 more)	Indel (missense variant)	not provided	GLikely benign
Select item 1139067	NM_000260.4(MYO7A):c.47_48inv (p.Leu16Ser)	MYO7A (L16S +1 more)	Inversion (missense variant)	not provided	GLikely benign
Select item 549974	NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter)	MYO7A (L16* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43258	NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)	MYO7A (L16S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 2 +4 more	GBenign
Select item 504505	NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)	MYO7A (Q18* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 546183	NM_000260.4(MYO7A):c.54G>C (p.Gln18His)	MYO7A (Q18H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1073698	NM_000260.4(MYO7A):c.55G>T (p.Glu19Ter)	MYO7A (E19* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1148012	NM_000260.4(MYO7A):c.60C>T (p.Phe20=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 845789	NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)	MYO7A (D10N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1084902	NM_000260.4(MYO7A):c.63C>T (p.Asp21=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1312914	NM_000260.4(MYO7A):c.64G>A (p.Val22Met)	MYO7A (V11M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1200213	NM_000260.4(MYO7A):c.64G>T (p.Val22Leu)	MYO7A (V11L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859052	NM_000260.4(MYO7A):c.65T>C (p.Val22Ala)	MYO7A (V11A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1104711	NM_000260.4(MYO7A):c.69C>T (p.Pro23=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1454803	NM_000260.4(MYO7A):c.73_98dup (p.Gly34_Gln35insArgTrpTerGly)	MYO7A	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 43341	NM_000260.4(MYO7A):c.72C>T (p.Ile24=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1180819	NM_000260.4(MYO7A):c.75_82del (p.Ala26fs)	MYO7A (A15fs +1 more)	Deletion (frameshift variant)	Ear malformation	GLikely pathogenic
Select item 177722	NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)	MYO7A (G25R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 765929	NM_000260.4(MYO7A):c.75G>C (p.Gly25=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191756	NM_000260.4(MYO7A):c.77C>T (p.Ala26Val)	MYO7A (A15V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 177731	NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu)	MYO7A (A26E +1 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +1 more	GPathogenic
Select item 2088384	NM_000260.4(MYO7A):c.78G>T (p.Ala26=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751537	NM_000260.4(MYO7A):c.78G>A (p.Ala26=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374154	NM_000260.4(MYO7A):c.80T>A (p.Val27Glu)	MYO7A (V16E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565017	NM_000260.4(MYO7A):c.81G>A (p.Val27=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1724243	NM_000260.4(MYO7A):c.83_84del (p.Val28fs)	MYO7A (V17fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1	GLikely pathogenic
Select item 2075894	NM_000260.4(MYO7A):c.84G>A (p.Val28=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1124916	NM_000260.4(MYO7A):c.87G>A (p.Lys29=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 43344	NM_000260.4(MYO7A):c.93C>T (p.Cys31=)	MYO7A	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 11 +4 more	GBenign/Likely benign
Select item 11859	NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)	MYO7A (C31* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 2490959	NM_000260.4(MYO7A):c.94G>A (p.Asp32Asn)	MYO7A (D21N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1962157	NM_000260.4(MYO7A):c.96C>T (p.Asp32=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976993	NM_000260.4(MYO7A):c.99T>C (p.Ser33=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 945193	NM_000260.4(MYO7A):c.99_100del (p.Gly34fs)	MYO7A (G34fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 792734	NM_000260.4(MYO7A):c.102G>A (p.Gly34=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 984276	NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter)	MYO7A (Q24* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1	GLikely pathogenic
Select item 983709	NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter)	MYO7A (Q26* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1477152	NM_000260.4(MYO7A):c.111G>C (p.Gln37His)	MYO7A (Q26H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1097114	NM_000260.4(MYO7A):c.111G>A (p.Gln37=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028767	NM_000260.4(MYO7A):c.114G>C (p.Val38=)	MYO7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 556811	NM_000260.4(MYO7A):c.117_132+6del	MYO7A	Deletion (splice donor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 1310771	NM_000260.4(MYO7A):c.119A>G (p.Asp40Gly)	MYO7A (D29G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943445	NM_000260.4(MYO7A):c.121G>T (p.Asp41Tyr)	MYO7A (D30Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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