KLHL7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	LOC129997989, LOC129997990 +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC123924901, LOC123924902 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	LOC129998080, LOC129998081 +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 144726	GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3	HYCC1, IL6 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58864	GRCh38/hg38 7p15.3(chr7:22955449-23155175)x1	HYCC1, KLHL7 +6 more	Copy number loss	See cases	GUncertain significance
Select item 359789	NM_001031710.2(KLHL7):c.-271C>T	KLHL7	Single nucleotide variant	Retinitis pigmentosa	GUncertain significance
Select item 359790	NM_001031710.3(KLHL7):c.-235G>T	KLHL7	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 359791	NM_001031710.3(KLHL7):c.-231G>C	KLHL7	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 359792	NM_001031710.3(KLHL7):c.-215T>A	KLHL7	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 359793	NM_001031710.3(KLHL7):c.-206C>T	KLHL7	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 359794	NM_001031710.3(KLHL7):c.-145C>T	KLHL7	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 359795	NM_001031710.3(KLHL7):c.-38G>A	KLHL7	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 359796	NM_001031710.3(KLHL7):c.-16A>G	KLHL7	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 970206	NM_001031710.3(KLHL7):c.4G>A (p.Ala2Thr)	KLHL7 (A2T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433167	NM_001031710.3(KLHL7):c.10T>G (p.Ser4Ala)	KLHL7 (S4A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433169	NM_001031710.3(KLHL7):c.14G>T (p.Gly5Val)	KLHL7 (G5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1615876	NM_001031710.3(KLHL7):c.15G>A (p.Gly5=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1005721	NM_001031710.3(KLHL7):c.16G>A (p.Val6Met)	KLHL7 (V6M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998818	NM_001031710.3(KLHL7):c.26G>A (p.Ser9Asn)	KLHL7 (S9N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1357706	NM_001031710.3(KLHL7):c.28A>G (p.Ser10Gly)	KLHL7 (S10G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977098	NM_001031710.3(KLHL7):c.33G>A (p.Lys11=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1146257	NM_001031710.3(KLHL7):c.51A>G (p.Lys17=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851758	NM_001031710.3(KLHL7):c.52C>T (p.Leu18Phe)	KLHL7 (L18F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2764669	NM_001031710.3(KLHL7):c.53T>C (p.Leu18Pro)	KLHL7 (L18P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2701040	NM_001031710.3(KLHL7):c.55G>C (p.Ala19Pro)	KLHL7 (A19P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1089218	NM_001031710.3(KLHL7):c.69A>G (p.Glu23=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1648093	NM_001031710.3(KLHL7):c.81G>A (p.Leu27=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1520266	NM_001031710.3(KLHL7):c.83C>T (p.Ala28Val)	KLHL7 (A28V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917980	NM_001031710.3(KLHL7):c.90C>T (p.Phe30=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1011582	NM_001031710.3(KLHL7):c.94G>T (p.Gly32Cys)	KLHL7 (G32C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992532	NM_001031710.3(KLHL7):c.97G>A (p.Val33Ile)	KLHL7 (V33I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2113885	NM_001031710.3(KLHL7):c.105T>C (p.Asn35=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 985678	NM_001031710.3(KLHL7):c.110T>C (p.Met37Thr)	KLHL7 (M37T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2771333	NM_001031710.3(KLHL7):c.115A>G (p.Lys39Glu)	KLHL7 (K39E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1001943	NM_001031710.3(KLHL7):c.120G>C (p.Gln40His)	KLHL7 (Q40H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1613798	NM_001031710.3(KLHL7):c.120+19T>A	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 802301	NM_001031710.3(KLHL7):c.121-5814A>G	KLHL7	Single nucleotide variant (non-coding transcript variant +1 more)	PERCHING syndrome	GBenign
Select item 2027126	NM_001031710.3(KLHL7):c.121-6G>C	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1125244	NM_001031710.3(KLHL7):c.123A>G (p.Lys41=)	KLHL7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1966500	NM_001031710.3(KLHL7):c.125C>T (p.Thr42Met)	KLHL7 (T42M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1660992	NM_001031710.3(KLHL7):c.126G>T (p.Thr42=)	KLHL7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 911033	NM_001031710.3(KLHL7):c.126G>A (p.Thr42=)	KLHL7	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2049777	NM_001031710.3(KLHL7):c.134A>G (p.Asp45Gly)	KLHL7 (D45G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2093410	NM_001031710.3(KLHL7):c.136G>C (p.Val46Leu)	KLHL7 (V46L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 965778	NM_001031710.3(KLHL7):c.141C>G (p.Ile47Met)	KLHL7 (I47M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2874099	NM_001031710.3(KLHL7):c.156A>G (p.Glu52=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1355464	NM_001031710.3(KLHL7):c.157A>G (p.Arg53Gly)	KLHL7 (R5G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2271433	NM_001031710.3(KLHL7):c.162G>C (p.Lys54Asn)	KLHL7 (K6N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985358	NM_001031710.3(KLHL7):c.175C>T (p.Arg59Cys)	KLHL7 (R11C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 430626	NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del)	KLHL7 (V61del +1 more)	Microsatellite (inframe_deletion +1 more)	PERCHING syndrome	GConflicting classifications of pathogenicity
Select item 2836395	NM_001031710.3(KLHL7):c.178G>A (p.Val60Ile)	KLHL7 (V60I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716330	NM_001031710.3(KLHL7):c.178G>C (p.Val60Leu)	KLHL7 (V12L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101682	NM_001031710.3(KLHL7):c.191C>T (p.Ala64Val)	KLHL7 (A64V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1132696	NM_001031710.3(KLHL7):c.198T>C (p.Ser66=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1228387	NM_001031710.3(KLHL7):c.223+5G>C	KLHL7	Single nucleotide variant (intron variant)	PERCHING syndrome	GLikely pathogenic
Select item 2025573	NM_001031710.3(KLHL7):c.224-17T>C	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1155523	NM_001031710.3(KLHL7):c.224-11C>T	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532512	NM_001031710.3(KLHL7):c.224-7A>G	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549143	NM_001031710.3(KLHL7):c.224-6T>C	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1505284	NM_001031710.3(KLHL7):c.229A>G (p.Met77Val)	KLHL7 (M29V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1451477	NM_001031710.3(KLHL7):c.232_253dup (p.Val85delinsAlaTer)	KLHL7	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 691635	NM_001031710.3(KLHL7):c.249del (p.Phe83fs)	KLHL7 (F35fs +1 more)	Deletion (frameshift variant +1 more)	Bohring-Opitz syndrome	GPathogenic
Select item 1970189	NM_001031710.3(KLHL7):c.251A>C (p.Glu84Ala)	KLHL7 (E36A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2694854	NM_001031710.3(KLHL7):c.253G>A (p.Val85Ile)	KLHL7 (V85I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024162	NM_001031710.3(KLHL7):c.254T>G (p.Val85Gly)	KLHL7 (V37G +1 more)	Single nucleotide variant (missense variant +1 more)	PERCHING syndrome	GUncertain significance
Select item 1375923	NM_001031710.3(KLHL7):c.259C>T (p.Leu87Phe)	KLHL7 (L39F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1650803	NM_001031710.3(KLHL7):c.270T>C (p.Ala90=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2860522	NM_001031710.3(KLHL7):c.275C>T (p.Pro92Leu)	KLHL7 (P92L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012907	NM_001031710.3(KLHL7):c.280ATT[1] (p.Ile95del)	KLHL7 (I95del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1958368	NM_001031710.3(KLHL7):c.291A>G (p.Gln97=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000303	NM_001031710.3(KLHL7):c.306T>C (p.Ala102=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3064762	NM_001031710.3(KLHL7):c.317+4A>G	KLHL7	Single nucleotide variant (intron variant)	PERCHING syndrome	GUncertain significance
Select item 2023770	NM_001031710.3(KLHL7):c.317+10G>T	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671828	NM_001031710.3(KLHL7):c.317+11T>C	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933367	NM_001031710.3(KLHL7):c.317+13T>C	KLHL7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 359797	NM_001031710.3(KLHL7):c.318-7T>C	KLHL7	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 1910209	NM_001031710.3(KLHL7):c.322T>G (p.Ser108Ala)	KLHL7 (S108A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935859	NM_001031710.3(KLHL7):c.324C>T (p.Ser108=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1001300	NM_001031710.3(KLHL7):c.325G>A (p.Val109Met)	KLHL7 (V109M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1058646	NM_001031710.3(KLHL7):c.338A>T (p.Asn113Ile)	KLHL7 (N113I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433168	NM_001031710.3(KLHL7):c.350T>C (p.Leu117Ser)	KLHL7 (L117S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055078	NM_001031710.3(KLHL7):c.351_352del (p.Leu117fs)	KLHL7 (L117fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 359798	NM_001031710.3(KLHL7):c.352C>T (p.Leu118=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	PERCHING syndrome +2 more	GBenign
Select item 1140141	NM_001031710.3(KLHL7):c.363A>C (p.Ala121=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1720179	NM_001031710.3(KLHL7):c.371A>G (p.Tyr124Cys)	KLHL7 (Y124C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1408696	NM_001031710.3(KLHL7):c.376A>G (p.Ile126Val)	KLHL7 (I126V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004933	NM_001031710.3(KLHL7):c.382C>T (p.Pro128Ser)	KLHL7 (P80S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1103961	NM_001031710.3(KLHL7):c.387G>A (p.Val129=)	KLHL7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1718499	NM_001031710.3(KLHL7):c.396G>A (p.Met132Ile)	KLHL7 (M132I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777087	NM_001031710.3(KLHL7):c.403G>T (p.Asp135Tyr)	KLHL7 (D87Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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