EHD1[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2230269	NM_006795.4(EHD1):c.1576G>T (p.Val526Leu)	EHD1, LOC126861233 (V540L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274873	NM_006795.4(EHD1):c.1484T>G (p.Leu495Arg)	EHD1, LOC126861233 (L495R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488425	NM_006795.4(EHD1):c.1468G>A (p.Val490Met)	EHD1, LOC126861233 (V490M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761088	NM_006795.4(EHD1):c.1437C>T (p.Thr479=)	EHD1, LOC126861233	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295186	NM_006795.4(EHD1):c.1393G>A (p.Ala465Thr)	EHD1, LOC126861233 (A479T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783617	NM_006795.4(EHD1):c.1392C>T (p.Gly464=)	EHD1, LOC126861233	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3274874	NM_006795.4(EHD1):c.1367C>A (p.Ser456Tyr)	EHD1, LOC126861233 (S456Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383326	NM_006795.4(EHD1):c.1337C>T (p.Pro446Leu)	EHD1, LOC126861233 (P446L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780053	NM_006795.4(EHD1):c.1308C>T (p.Asp436=)	EHD1, LOC126861233	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747435	NM_006795.4(EHD1):c.1302C>T (p.Ile434=)	EHD1, LOC126861233	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274651	NM_006795.4(EHD1):c.1291G>A (p.Gly431Ser)	EHD1, LOC126861233 (G431S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615988	NM_006795.4(EHD1):c.1262C>T (p.Pro421Leu)	EHD1, LOC126861233 (P421L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604868	NM_006795.4(EHD1):c.1208T>C (p.Leu403Pro)	EHD1, LOC126861233 (L403P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087765	NM_006795.4(EHD1):c.1204T>A (p.Ser402Thr)	EHD1, LOC126861233 (S402T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087764	NM_006795.4(EHD1):c.1198G>A (p.Glu400Lys)	EHD1, LOC126861233 (E400K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367839	NM_006795.4(EHD1):c.1193G>A (p.Arg398Gln)	EHD1, LOC126861233 (R398Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087763	NM_006795.4(EHD1):c.1168A>G (p.Ile390Val)	EHD1, LOC126861233 (I404V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087761	NM_006795.4(EHD1):c.1165G>A (p.Asp389Asn)	EHD1, LOC126861233 (D389N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750340	NM_006795.4(EHD1):c.1119G>A (p.Ala373=)	EHD1, LOC126861233	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087760	NM_006795.4(EHD1):c.1118C>T (p.Ala373Val)	EHD1, LOC126861233 (A373V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779203	NM_006795.4(EHD1):c.1080+9G>A	EHD1, LOC126861233	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3087759	NM_006795.4(EHD1):c.1069C>T (p.Arg357Cys)	EHD1, LOC126861233 (R371C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087758	NM_006795.4(EHD1):c.1031G>A (p.Arg344His)	EHD1, LOC126861233 (R344H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603478	NM_006795.4(EHD1):c.1007G>T (p.Gly336Val)	EHD1, LOC126861233 (G350V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769799	NM_006795.4(EHD1):c.1005= (p.Leu335=)	EHD1, LOC126861233	Variation (no sequence alteration)	not provided	GBenign
Select item 2385938	NM_006795.4(EHD1):c.977G>A (p.Ser326Asn)	EHD1, LOC126861233 (S340N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274875	NM_006795.4(EHD1):c.911C>G (p.Ala304Gly)	EHD1 (A304G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616772	NM_006795.4(EHD1):c.899G>A (p.Arg300Gln)	EHD1 (R300Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290094	NM_006795.4(EHD1):c.844A>G (p.Ile282Val)	EHD1 (I296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783618	NM_006795.4(EHD1):c.819C>G (p.Ala273=)	EHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2389771	NM_006795.4(EHD1):c.676A>G (p.Thr226Ala)	EHD1 (T226A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382498	NM_006795.4(EHD1):c.673G>A (p.Glu225Lys)	EHD1 (E239K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707880	NM_006795.4(EHD1):c.559C>T (p.Leu187=)	EHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2527280	NM_006795.4(EHD1):c.430C>G (p.Pro144Ala)	EHD1 (P144A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624173	NM_006795.4(EHD1):c.424C>T (p.Pro142Ser)	EHD1 (P142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784191	NM_006795.4(EHD1):c.342C>G (p.Leu114=)	EHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2341483	NM_006795.4(EHD1):c.266G>A (p.Gly89Glu)	EHD1 (G103E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516520	NM_006795.4(EHD1):c.246C>G (p.Asp82Glu)	EHD1 (D82E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735813	NM_006795.4(EHD1):c.232C>T (p.Leu78=)	EHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270206	NM_006795.4(EHD1):c.227G>A (p.Arg76Gln)	EHD1 (R76Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204199	NM_006795.4(EHD1):c.212A>G (p.Lys71Arg)	EHD1 (K71R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539958	NM_006795.4(EHD1):c.176C>T (p.Pro59Leu)	EHD1 (P73L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207015	NM_006795.4(EHD1):c.122G>A (p.Arg41His)	EHD1 (R41H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534949	NM_006795.4(EHD1):c.115C>T (p.His39Tyr)	EHD1 (H39Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769800	NM_006795.4(EHD1):c.66= (p.Ala22=)	EHD1, LOC130005973	Variation (no sequence alteration)	not provided	GBenign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	GPHA2, POLA2 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684647	GRCh37/hg19 11q13.1(chr11:64557855-64741375)x3	ATG2A, CDC42BPG +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 687992	GRCh37/hg19 11q13.1(chr11:64396501-64883447)x3	ARL2, ATG2A +21 more	Copy number gain	not provided	GUncertain significance
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 219033	GRCh37/hg19 11q13.1(chr11:64485197-64691737)x3	EHD1, MAP4K2 +9 more	Copy number gain	See cases	GUncertain significance

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Items: 59