19688[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3351152	NM_030916.3(NECTIN4):c.1517G>A (p.Arg506Gln)	NECTIN4 (R506Q)	Single nucleotide variant (missense variant)	NECTIN4-related disorder	GUncertain significance
Select item 2246299	NM_030916.3(NECTIN4):c.1501A>G (p.Ile501Val)	NECTIN4 (I501V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1591880	NM_030916.3(NECTIN4):c.1500C>A (p.Gly500=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721173	NM_030916.3(NECTIN4):c.1491G>A (p.Thr497=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434319	NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)	NECTIN4 (T497M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GUncertain significance
Select item 1029983	NM_030916.3(NECTIN4):c.1478G>C (p.Arg493Pro)	NECTIN4 (R493P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GUncertain significance
Select item 2713305	NM_030916.3(NECTIN4):c.1469G>T (p.Gly490Val)	NECTIN4 (G490V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013259	NM_030916.3(NECTIN4):c.1465A>G (p.Asn489Asp)	NECTIN4 (N489D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032240	NM_030916.3(NECTIN4):c.1387C>G (p.Pro463Ala)	NECTIN4 (P463A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2060471	NM_030916.3(NECTIN4):c.1353G>A (p.Val451=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2180178	NM_030916.3(NECTIN4):c.1347C>T (p.Thr449=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2421511	NM_030916.3(NECTIN4):c.1341G>A (p.Thr447=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729008	NM_030916.3(NECTIN4):c.1338C>T (p.Ser446=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 418440	NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)	NECTIN4 (R443C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1903224	NM_030916.3(NECTIN4):c.1306A>G (p.Met436Val)	NECTIN4 (M436V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109794	NM_030916.3(NECTIN4):c.1269C>T (p.His423=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997308	NM_030916.3(NECTIN4):c.1263G>A (p.Glu421=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067296	NM_030916.3(NECTIN4):c.1260C>T (p.Ala420=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954853	NM_030916.3(NECTIN4):c.1240G>A (p.Glu414Lys)	NECTIN4 (E414K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726710	NM_030916.3(NECTIN4):c.1236G>A (p.Pro412=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1638483	NM_030916.3(NECTIN4):c.1234-17G>A	NECTIN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1324796	NM_030916.3(NECTIN4):c.1233+1G>A	NECTIN4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1915785	NM_030916.3(NECTIN4):c.1179C>G (p.Thr393=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198300	NM_030916.3(NECTIN4):c.1129C>T (p.Arg377Cys)	NECTIN4 (R377C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1585024	NM_030916.3(NECTIN4):c.1068C>T (p.Ile356=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612942	NM_030916.3(NECTIN4):c.1001-16G>A	NECTIN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1601464	NM_030916.3(NECTIN4):c.1000+18A>G	NECTIN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2901714	NM_030916.3(NECTIN4):c.999T>C (p.Leu333=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2069460	NM_030916.3(NECTIN4):c.984C>T (p.Val328=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050949	NM_030916.3(NECTIN4):c.971G>C (p.Arg324Thr)	NECTIN4 (R324T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998681	NM_030916.3(NECTIN4):c.931G>A (p.Gly311Ser)	NECTIN4 (G311S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1594034	NM_030916.3(NECTIN4):c.930C>T (p.Ser310=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602	NM_030916.3(NECTIN4):c.906del (p.Pro304fs)	NECTIN4 (P304fs)	Deletion (frameshift variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 2200839	NM_030916.3(NECTIN4):c.883G>A (p.Val295Met)	NECTIN4 (V295M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996828	NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter)	NECTIN4 (R294*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 1298442	NM_030916.3(NECTIN4):c.852G>T (p.Arg284=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1600	NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln)	NECTIN4 (R284Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 3019371	NM_030916.3(NECTIN4):c.809G>A (p.Cys270Tyr)	NECTIN4 (C270Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899893	NM_030916.3(NECTIN4):c.731-13C>T	NECTIN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 425551	NM_030916.3(NECTIN4):c.724G>A (p.Val242Met)	NECTIN4 (V242M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 730430	NM_030916.3(NECTIN4):c.666T>C (p.Thr222=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30794	NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg)	NECTIN4 (P212R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 2890926	NM_030916.3(NECTIN4):c.615C>T (p.Thr205=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2124064	NM_030916.3(NECTIN4):c.614C>T (p.Thr205Ile)	NECTIN4 (T205I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934690	NM_030916.3(NECTIN4):c.609C>G (p.Ala203=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710702	NM_030916.3(NECTIN4):c.598C>A (p.Arg200Ser)	NECTIN4 (R200S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446359	NM_030916.3(NECTIN4):c.575C>T (p.Ser192Phe)	NECTIN4 (S192F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601	NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met)	NECTIN4 (T185M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 1913965	NM_030916.3(NECTIN4):c.552C>T (p.Asp184=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715592	NM_030916.3(NECTIN4):c.447C>T (p.Pro149=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538150	NM_030916.3(NECTIN4):c.436C>A (p.Leu146Met)	NECTIN4 (L146M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1975102	NM_030916.3(NECTIN4):c.432A>G (p.Arg144=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947478	NM_030916.3(NECTIN4):c.424C>A (p.Arg142=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889126	NM_030916.3(NECTIN4):c.381C>T (p.Cys127=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718064	NM_030916.3(NECTIN4):c.320C>T (p.Pro107Leu)	NECTIN4 (P107L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1663617	NM_030916.3(NECTIN4):c.310C>A (p.Pro104Thr)	NECTIN4 (P104T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2797067	NM_030916.3(NECTIN4):c.285G>A (p.Glu95=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053553	NM_030916.3(NECTIN4):c.267T>C (p.His89=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139019	NM_030916.3(NECTIN4):c.255A>C (p.Lys85Asn)	NECTIN4 (K85N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2209899	NM_030916.3(NECTIN4):c.232G>C (p.Glu78Gln)	NECTIN4 (E78Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807665	NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter)	NECTIN4 (Q77*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 425552	NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter)	NECTIN4 (Q61*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia-syndactyly syndrome 1	GPathogenic
Select item 2043787	NM_030916.3(NECTIN4):c.168G>A (p.Gly56=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1537495	NM_030916.3(NECTIN4):c.157T>C (p.Phe53Leu)	NECTIN4 (F53L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2968361	NM_030916.3(NECTIN4):c.93G>A (p.Ala31=)	NECTIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2147750	NM_030916.3(NECTIN4):c.22G>A (p.Glu8Lys)	NECTIN4, NECTIN4-AS1 (E8K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722372	NM_030916.3(NECTIN4):c.21C>T (p.Ala7=)	NECTIN4, NECTIN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 85