29313[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150331	GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4	ADAM23, CMKLR2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 2172472	NM_020923.3(ZDBF2):c.60+7G>A	ZDBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2730515	NM_020923.3(ZDBF2):c.72T>C (p.Ser24=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240994	NM_020923.3(ZDBF2):c.97C>G (p.Gln33Glu)	ZDBF2 (Q33E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524299	NM_020923.3(ZDBF2):c.115T>C (p.Cys39Arg)	ZDBF2 (C39R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377680	NM_020923.3(ZDBF2):c.116G>T (p.Cys39Phe)	ZDBF2 (C37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287693	NM_020923.3(ZDBF2):c.118A>G (p.Thr40Ala)	ZDBF2 (T40A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2013566	NM_020923.3(ZDBF2):c.124A>G (p.Ser42Gly)	ZDBF2 (S40G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3192595	NM_020923.3(ZDBF2):c.184A>G (p.Ser62Gly)	ZDBF2 (S60G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3020140	NM_020923.3(ZDBF2):c.189-17C>T	ZDBF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2037414	NM_020923.3(ZDBF2):c.234A>G (p.Glu78=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2823821	NM_020923.3(ZDBF2):c.296A>T (p.Asp99Val)	ZDBF2 (D99V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2312197	NM_020923.3(ZDBF2):c.305C>G (p.Ala102Gly)	ZDBF2 (A100G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2965019	NM_020923.3(ZDBF2):c.310G>A (p.Glu104Lys)	ZDBF2 (E102K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710896	NM_020923.3(ZDBF2):c.324C>T (p.Ser108=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192605	NM_020923.3(ZDBF2):c.347A>T (p.Glu116Val)	ZDBF2 (E114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2712199	NM_020923.3(ZDBF2):c.350T>G (p.Leu117Ter)	ZDBF2 (L117* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2514758	NM_020923.3(ZDBF2):c.383C>T (p.Thr128Met)	ZDBF2 (T126M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2897006	NM_020923.3(ZDBF2):c.384G>A (p.Thr128=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735252	NM_020923.3(ZDBF2):c.386A>G (p.Gln129Arg)	ZDBF2 (Q127R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2258026	NM_020923.3(ZDBF2):c.397G>A (p.Val133Ile)	ZDBF2 (V131I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340296	NM_020923.3(ZDBF2):c.422T>A (p.Leu141Gln)	ZDBF2 (L139Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192611	NM_020923.3(ZDBF2):c.442C>G (p.Pro148Ala)	ZDBF2 (P148A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2972227	NM_020923.3(ZDBF2):c.453T>A (p.Phe151Leu)	ZDBF2 (F151L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3192615	NM_020923.3(ZDBF2):c.472A>C (p.Ser158Arg)	ZDBF2 (S156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1600914	NM_020923.3(ZDBF2):c.479G>A (p.Arg160Lys)	ZDBF2 (R158K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2620991	NM_020923.3(ZDBF2):c.484T>G (p.Cys162Gly)	ZDBF2 (C162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293896	NM_020923.3(ZDBF2):c.584C>T (p.Ser195Phe)	ZDBF2 (S195F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334205	NM_020923.3(ZDBF2):c.596C>T (p.Pro199Leu)	ZDBF2 (P199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275805	NM_020923.3(ZDBF2):c.619T>G (p.Leu207Val)	ZDBF2 (L207V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2056569	NM_020923.3(ZDBF2):c.666C>A (p.Asn222Lys)	ZDBF2 (N220K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717439	NM_020923.3(ZDBF2):c.750G>A (p.Ser250=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786490	NM_020923.3(ZDBF2):c.752A>G (p.Tyr251Cys)	ZDBF2 (Y249C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1613608	NM_020923.3(ZDBF2):c.774T>C (p.Asn258=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709368	NM_020923.3(ZDBF2):c.788G>A (p.Arg263His)	ZDBF2 (R261H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2544174	NM_020923.3(ZDBF2):c.835G>T (p.Gly279Cys)	ZDBF2 (G277C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221828	NM_020923.3(ZDBF2):c.845T>C (p.Leu282Ser)	ZDBF2 (L282S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2158197	NM_020923.3(ZDBF2):c.870A>G (p.Glu290=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3334186	NM_020923.3(ZDBF2):c.874A>G (p.Met292Val)	ZDBF2 (M290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2805353	NM_020923.3(ZDBF2):c.930G>A (p.Pro310=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786491	NM_020923.3(ZDBF2):c.945G>T (p.Met315Ile)	ZDBF2 (M313I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1613598	NM_020923.3(ZDBF2):c.990T>C (p.His330=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2304528	NM_020923.3(ZDBF2):c.1040T>G (p.Val347Gly)	ZDBF2 (V347G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1950621	NM_020923.3(ZDBF2):c.1054G>T (p.Ala352Ser)	ZDBF2 (A350S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053252	NM_020923.3(ZDBF2):c.1082G>C (p.Ser361Thr)	ZDBF2 (S359T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 786492	NM_020923.3(ZDBF2):c.1092G>T (p.Met364Ile)	ZDBF2 (M362I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2350668	NM_020923.3(ZDBF2):c.1136A>G (p.Gln379Arg)	ZDBF2 (Q379R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334195	NM_020923.3(ZDBF2):c.1150G>A (p.Asp384Asn)	ZDBF2 (D382N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2051494	NM_020923.3(ZDBF2):c.1166A>G (p.Lys389Arg)	ZDBF2 (K387R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2312865	NM_020923.3(ZDBF2):c.1193A>T (p.Asn398Ile)	ZDBF2 (N396I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2177084	NM_020923.3(ZDBF2):c.1204A>G (p.Arg402Gly)	ZDBF2 (R402G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2221889	NM_020923.3(ZDBF2):c.1232G>T (p.Ser411Ile)	ZDBF2 (S409I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266123	NM_020923.3(ZDBF2):c.1235C>G (p.Ser412Cys)	ZDBF2 (S410C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262748	NM_020923.3(ZDBF2):c.1238C>G (p.Ser413Cys)	ZDBF2 (S413C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259784	NM_020923.3(ZDBF2):c.1276A>G (p.Lys426Glu)	ZDBF2 (K424E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528985	NM_020923.3(ZDBF2):c.1295A>G (p.Lys432Arg)	ZDBF2 (K430R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379249	NM_020923.3(ZDBF2):c.1303C>T (p.Arg435Cys)	ZDBF2 (R433C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543550	NM_020923.3(ZDBF2):c.1304G>A (p.Arg435His)	ZDBF2 (R435H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2764486	NM_020923.3(ZDBF2):c.1363G>T (p.Asp455Tyr)	ZDBF2 (D455Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2719981	NM_020923.3(ZDBF2):c.1368C>T (p.Asp456=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192593	NM_020923.3(ZDBF2):c.1460A>G (p.Tyr487Cys)	ZDBF2 (Y485C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2901723	NM_020923.3(ZDBF2):c.1468AGT[1] (p.Ser492del)	ZDBF2 (S490del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3192594	NM_020923.3(ZDBF2):c.1475C>T (p.Ser492Phe)	ZDBF2 (S490F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334200	NM_020923.3(ZDBF2):c.1481C>T (p.Thr494Met)	ZDBF2 (T492M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 785987	NM_020923.3(ZDBF2):c.1482G>A (p.Thr494=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2104293	NM_020923.3(ZDBF2):c.1492T>C (p.Cys498Arg)	ZDBF2 (C496R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3334202	NM_020923.3(ZDBF2):c.1505C>T (p.Pro502Leu)	ZDBF2 (P500L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2148919	NM_020923.3(ZDBF2):c.1778T>C (p.Val593Ala)	ZDBF2 (V591A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2330106	NM_020923.3(ZDBF2):c.1790A>C (p.Gln597Pro)	ZDBF2 (Q597P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2045683	NM_020923.3(ZDBF2):c.1798G>A (p.Val600Ile)	ZDBF2 (V598I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178587	NM_020923.3(ZDBF2):c.1836A>G (p.Leu612=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769579	NM_020923.3(ZDBF2):c.1850G>A (p.Arg617His)	ZDBF2 (R615H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2486353	NM_020923.3(ZDBF2):c.1874A>G (p.His625Arg)	ZDBF2 (H623R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464133	NM_020923.3(ZDBF2):c.2009T>C (p.Phe670Ser)	ZDBF2 (F668S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774837	NM_020923.3(ZDBF2):c.2059C>T (p.Arg687Cys)	ZDBF2 (R685C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2042799	NM_020923.3(ZDBF2):c.2060G>A (p.Arg687His)	ZDBF2 (R685H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2359379	NM_020923.3(ZDBF2):c.2107C>T (p.Arg703Cys)	ZDBF2 (R703C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458751	NM_020923.3(ZDBF2):c.2132C>T (p.Pro711Leu)	ZDBF2 (P709L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192596	NM_020923.3(ZDBF2):c.2147A>G (p.His716Arg)	ZDBF2 (H714R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2151197	NM_020923.3(ZDBF2):c.2158G>C (p.Asp720His)	ZDBF2 (D718H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2825874	NM_020923.3(ZDBF2):c.2160T>A (p.Asp720Glu)	ZDBF2 (D718E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2282587	NM_020923.3(ZDBF2):c.2212A>G (p.Met738Val)	ZDBF2 (M736V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2756173	NM_020923.3(ZDBF2):c.2299C>T (p.Leu767=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194388	NM_020923.3(ZDBF2):c.2320C>T (p.Arg774Trp)	ZDBF2 (R774W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724156	NM_020923.3(ZDBF2):c.2334G>C (p.Leu778=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904149	NM_020923.3(ZDBF2):c.2376T>A (p.Phe792Leu)	ZDBF2 (F790L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542483	NM_020923.3(ZDBF2):c.2474G>A (p.Cys825Tyr)	ZDBF2 (C823Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525844	NM_020923.3(ZDBF2):c.2537T>G (p.Val846Gly)	ZDBF2 (V846G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2998948	NM_020923.3(ZDBF2):c.2568G>A (p.Glu856=)	ZDBF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225436	NM_020923.3(ZDBF2):c.2605G>C (p.Gly869Arg)	ZDBF2 (G867R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192597	NM_020923.3(ZDBF2):c.2621C>T (p.Ser874Leu)	ZDBF2 (S874L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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