26010[HGNC] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152349	GRCh38/hg38 5q34-35.1(chr5:168433412-171417179)x1	C5orf58, DOCK2 +84 more	Copy number loss	See cases	GUncertain significance
Select item 153055	GRCh38/hg38 5q35.1(chr5:169309260-169816053)x3	DOCK2, LOC126807589 +14 more	Copy number gain	See cases	GUncertain significance
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 2225636	NM_017785.5(SPDL1):c.7G>A (p.Ala3Thr)	SPDL1 (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322043	NM_017785.5(SPDL1):c.13A>G (p.Ile5Val)	SPDL1 (I5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493513	NM_017785.5(SPDL1):c.31T>C (p.Cys11Arg)	SPDL1 (C11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322044	NM_017785.5(SPDL1):c.38T>G (p.Leu13Arg)	SPDL1 (L13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403906	NM_017785.5(SPDL1):c.47C>T (p.Ala16Val)	SPDL1 (A16V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2236438	NM_017785.5(SPDL1):c.125A>G (p.Asp42Gly)	SPDL1 (D42G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322050	NM_017785.5(SPDL1):c.134G>A (p.Arg45His)	SPDL1 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783621	NM_017785.5(SPDL1):c.164A>G (p.Tyr55Cys)	SPDL1 (Y55C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2623733	NM_017785.5(SPDL1):c.182C>G (p.Thr61Ser)	SPDL1 (T61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315347	NM_017785.5(SPDL1):c.231C>G (p.Ser77Arg)	SPDL1 (S77R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168726	NM_017785.5(SPDL1):c.403G>C (p.Asp135His)	SPDL1 (D135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560136	NM_017785.5(SPDL1):c.413A>G (p.Lys138Arg)	SPDL1 (K138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322046	NM_017785.5(SPDL1):c.446G>A (p.Arg149His)	SPDL1 (R149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396119	NM_017785.5(SPDL1):c.463G>A (p.Val155Met)	SPDL1 (V155M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322048	NM_017785.5(SPDL1):c.533C>T (p.Thr178Ile)	SPDL1 (T107I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322047	NM_017785.5(SPDL1):c.548A>C (p.Glu183Ala)	SPDL1 (E183A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492461	NM_017785.5(SPDL1):c.602T>C (p.Leu201Pro)	SPDL1 (L201P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168727	NM_017785.5(SPDL1):c.607C>G (p.Arg203Gly)	SPDL1 (R132G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342533	NM_017785.5(SPDL1):c.608G>T (p.Arg203Leu)	SPDL1 (R203L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168728	NM_017785.5(SPDL1):c.674C>T (p.Ala225Val)	SPDL1 (A225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252714	NM_017785.5(SPDL1):c.752A>G (p.Asn251Ser)	SPDL1 (N251S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168729	NM_017785.5(SPDL1):c.808C>T (p.Arg270Cys)	SPDL1 (R199C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354707	NM_017785.5(SPDL1):c.823A>G (p.Met275Val)	SPDL1 (M204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455248	NM_017785.5(SPDL1):c.878T>C (p.Met293Thr)	SPDL1 (M222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753082	NM_017785.5(SPDL1):c.892-2A>G	SPDL1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2381331	NM_017785.5(SPDL1):c.932C>G (p.Thr311Ser)	SPDL1 (T311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322045	NM_017785.5(SPDL1):c.952C>T (p.Arg318Trp)	SPDL1 (R318W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463047	NM_017785.5(SPDL1):c.1046G>C (p.Ser349Thr)	SPDL1 (S278T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783622	NM_017785.5(SPDL1):c.1054T>C (p.Ser352Pro)	SPDL1 (S352P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3322052	NM_017785.5(SPDL1):c.1087G>A (p.Asp363Asn)	SPDL1 (D363N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369298	NM_017785.5(SPDL1):c.1130A>G (p.Asn377Ser)	SPDL1 (N306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598921	NM_017785.5(SPDL1):c.1145T>C (p.Ile382Thr)	SPDL1 (I311T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352718	NM_017785.5(SPDL1):c.1178G>A (p.Arg393Gln)	SPDL1 (R322Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168722	NM_017785.5(SPDL1):c.1202A>G (p.Gln401Arg)	SPDL1 (Q330R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168723	NM_017785.5(SPDL1):c.1217T>C (p.Ile406Thr)	SPDL1 (I335T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618369	NM_017785.5(SPDL1):c.1295A>G (p.Asp432Gly)	SPDL1 (D361G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368032	NM_017785.5(SPDL1):c.1303A>G (p.Lys435Glu)	SPDL1 (K364E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289954	NM_017785.5(SPDL1):c.1327A>G (p.Thr443Ala)	SPDL1 (T443A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480740	NM_017785.5(SPDL1):c.1358G>C (p.Arg453Pro)	SPDL1 (R382P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491070	NM_017785.5(SPDL1):c.1363G>A (p.Val455Met)	SPDL1 (V384M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790023	NM_017785.5(SPDL1):c.1365G>A (p.Val455=)	SPDL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2403445	NM_017785.5(SPDL1):c.1387G>A (p.Ala463Thr)	SPDL1 (A392T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218993	NM_017785.5(SPDL1):c.1396G>A (p.Ala466Thr)	SPDL1 (A395T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3322049	NM_017785.5(SPDL1):c.1420G>A (p.Gly474Arg)	SPDL1 (G403R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365887	NM_017785.5(SPDL1):c.1442C>T (p.Pro481Leu)	SPDL1 (P410L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234804	NM_017785.5(SPDL1):c.1483G>A (p.Glu495Lys)	SPDL1 (E424K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227153	NM_017785.5(SPDL1):c.1522T>C (p.Tyr508His)	SPDL1 (Y437H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3322051	NM_017785.5(SPDL1):c.1589A>G (p.Lys530Arg)	SPDL1 (K459R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211254	NM_017785.5(SPDL1):c.1618G>A (p.Ala540Thr)	SPDL1 (A469T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525517	NM_017785.5(SPDL1):c.1624G>A (p.Ala542Thr)	SPDL1 (A542T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168725	NM_017785.5(SPDL1):c.1687A>G (p.Lys563Glu)	SPDL1 (K492E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2239953	NM_017785.5(SPDL1):c.1689G>T (p.Lys563Asn)	SPDL1 (K492N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 183325	NM_017785.5(SPDL1):c.1724_1747del (p.Ser575_Thr582del)	SPDL1	Deletion (3 prime UTR variant +1 more)	Neonatal death +1 more	GLikely pathogenic
Select item 3322053	NM_017785.5(SPDL1):c.1805G>A (p.Cys602Tyr)	SPDL1 (C531Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062837	GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)x1	C5orf58, DOCK2 +18 more	Copy number loss	not specified	GPathogenic
Select item 2425244	NC_000005.9:g.(?_167849013)_(169661202_?)del	C5orf58, DOCK2 +8 more	Deletion	DOCK2 deficiency	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1527205	GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)	ATP6V0E1, BNIP1 +35 more	Copy number loss	not specified	GPathogenic
Select item 980751	GRCh37/hg19 5q34-35.1(chr5:166378793-170174830)x1	C5orf58, DOCK2 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 692223	GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1	SPDL1, TENM2 +37 more	Copy number loss	Atrial septal defect 7	GPathogenic
Select item 684880	GRCh37/hg19 5q33.3-35.1(chr5:156597181-171166353)x3	C5orf52, ADAM19 +51 more	Copy number gain	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441595	GRCh37/hg19 5q35.1(chr5:168955293-170432136)x1	C5orf58, DOCK2 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic

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Items: 76