ClinVar for Gene (Select 30846) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338438	GRCh37/hg19 19q13.33(chr19:48185250-48245216)x1	BICRA, EHD2	Copy number loss	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 3274882	NM_014601.4(EHD2):c.1553A>G (p.Glu518Gly)	EHD2 (E518G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274881	NM_014601.4(EHD2):c.944A>G (p.Lys315Arg)	EHD2 (K315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274880	NM_014601.4(EHD2):c.826C>G (p.Gln276Glu)	EHD2 (Q276E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274879	NM_014601.4(EHD2):c.427A>G (p.Asn143Asp)	EHD2 (N143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274877	NM_014601.4(EHD2):c.1046C>A (p.Ser349Tyr)	EHD2 (S349Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274876	NM_014601.4(EHD2):c.922G>A (p.Ala308Thr)	EHD2 (A308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087770	NM_014601.4(EHD2):c.985A>C (p.Lys329Gln)	EHD2 (K329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087769	NM_014601.4(EHD2):c.947A>G (p.Lys316Arg)	EHD2 (K316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087768	NM_014601.4(EHD2):c.59C>T (p.Thr20Met)	EHD2 (T20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087767	NM_014601.4(EHD2):c.298G>A (p.Val100Ile)	EHD2 (V100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087766	NM_014601.4(EHD2):c.173A>C (p.Lys58Thr)	EHD2 (K58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591898	NM_014601.4(EHD2):c.1094C>T (p.Ala365Val)	EHD2 (A365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2554055	NM_014601.4(EHD2):c.31C>T (p.Arg11Trp)	EHD2 (R11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539245	NM_014601.4(EHD2):c.625G>A (p.Gly209Ser)	EHD2 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537088	NM_014601.4(EHD2):c.1019C>A (p.Ala340Glu)	EHD2 (A340E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523172	NM_014601.4(EHD2):c.1151A>G (p.Glu384Gly)	EHD2 (E384G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521817	NM_014601.4(EHD2):c.122G>A (p.Arg41His)	EHD2 (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520620	NM_014601.4(EHD2):c.1274G>A (p.Arg425Gln)	EHD2 (R425Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507707	NM_014601.4(EHD2):c.1258G>C (p.Gly420Arg)	EHD2 (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504585	GRCh37/hg19 19q13.33(chr19:48197371-48246391)	BICRA, EHD2	Copy number loss	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 2471794	NM_014601.4(EHD2):c.1325C>A (p.Ala442Asp)	EHD2 (A442D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402426	NM_014601.4(EHD2):c.938A>G (p.Tyr313Cys)	EHD2 (Y313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401260	NM_014601.4(EHD2):c.470T>C (p.Ile157Thr)	EHD2 (I157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377187	NM_014601.4(EHD2):c.1070A>C (p.Gln357Pro)	EHD2 (Q357P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364829	NM_014601.4(EHD2):c.1382C>T (p.Ala461Val)	EHD2 (A461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358185	NM_014601.4(EHD2):c.1390G>A (p.Asp464Asn)	EHD2 (D464N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342784	NM_014601.4(EHD2):c.43C>T (p.Pro15Ser)	EHD2 (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335196	NM_014601.4(EHD2):c.1171G>C (p.Ala391Pro)	EHD2 (A391P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333105	NM_014601.4(EHD2):c.385G>A (p.Gly129Arg)	EHD2 (G129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317882	NM_014601.4(EHD2):c.88C>T (p.Arg30Cys)	EHD2 (R30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267511	NM_014601.4(EHD2):c.1571C>A (p.Ala524Asp)	EHD2 (A524D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245209	NM_014601.4(EHD2):c.368G>A (p.Arg123His)	EHD2 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204456	NM_014601.4(EHD2):c.1177C>T (p.Leu393Phe)	EHD2 (L393F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816088	GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3	NOP53, EHD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 564586	GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3	SULT2A1, NOP53 +5 more	Copy number gain	not provided	GUncertain significance
Select item 493601	GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3	EHD2, NOP53 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 221768	GRCh38/hg38 19q13.33(chr19:47559877-47778812)x1	BICRA, BICRA-AS2 +25 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51