ClinVar for Gene (Select 4064) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264745	NM_005582.3(CD180):c.346A>G (p.Met116Val)	CD180 (M116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264744	NM_005582.3(CD180):c.13G>A (p.Val5Ile)	CD180 (V5I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3140366	NM_005582.3(CD180):c.974A>C (p.Lys325Thr)	CD180 (K325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140365	NM_005582.3(CD180):c.83G>A (p.Cys28Tyr)	CD180 (C28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140364	NM_005582.3(CD180):c.829G>A (p.Glu277Lys)	CD180 (E277K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140363	NM_005582.3(CD180):c.721G>A (p.Gly241Ser)	CD180 (G241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140362	NM_005582.3(CD180):c.526A>C (p.Lys176Gln)	CD180 (K176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140361	NM_005582.3(CD180):c.404C>T (p.Thr135Met)	CD180 (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140360	NM_005582.3(CD180):c.311G>T (p.Ser104Ile)	CD180 (S104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140359	NM_005582.3(CD180):c.304C>G (p.Gln102Glu)	CD180 (Q102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140358	NM_005582.3(CD180):c.224G>C (p.Arg75Thr)	CD180 (R75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140356	NM_005582.3(CD180):c.1889T>C (p.Ile630Thr)	CD180 (I630T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140355	NM_005582.3(CD180):c.1783A>G (p.Asn595Asp)	CD180 (N595D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140354	NM_005582.3(CD180):c.1663A>C (p.Ile555Leu)	CD180 (I555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140353	NM_005582.3(CD180):c.1574T>C (p.Val525Ala)	CD180 (V525A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140352	NM_005582.3(CD180):c.1445A>C (p.Gln482Pro)	CD180 (Q482P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140350	NM_005582.3(CD180):c.1270C>G (p.Leu424Val)	CD180 (L424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 2655504	NM_005582.3(CD180):c.681G>A (p.Leu227=)	CD180	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623761	NM_005582.3(CD180):c.916A>C (p.Thr306Pro)	CD180 (T306P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612096	NM_005582.3(CD180):c.238A>G (p.Thr80Ala)	CD180 (T80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605946	NM_005582.3(CD180):c.1389T>A (p.His463Gln)	CD180 (H463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603094	NM_005582.3(CD180):c.1603G>A (p.Asp535Asn)	CD180 (D535N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598729	NM_005582.3(CD180):c.1259C>T (p.Pro420Leu)	CD180 (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591350	NM_005582.3(CD180):c.1802G>C (p.Gly601Ala)	CD180 (G601A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560151	NM_005582.3(CD180):c.923C>T (p.Thr308Ile)	CD180 (T308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559651	NM_005582.3(CD180):c.1835C>T (p.Ser612Phe)	CD180 (S612F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536508	NM_005582.3(CD180):c.403A>G (p.Thr135Ala)	CD180 (T135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534997	NM_005582.3(CD180):c.1450G>C (p.Gly484Arg)	CD180 (G484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532418	NM_005582.3(CD180):c.482T>G (p.Ile161Ser)	CD180 (I161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531380	NM_005582.3(CD180):c.812T>C (p.Leu271Pro)	CD180 (L271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531348	NM_005582.3(CD180):c.314C>T (p.Thr105Ile)	CD180 (T105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522655	NM_005582.3(CD180):c.374A>G (p.Lys125Arg)	CD180 (K125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510537	NM_005582.3(CD180):c.1099G>C (p.Glu367Gln)	CD180 (E367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508353	NM_005582.3(CD180):c.226C>T (p.Leu76Phe)	CD180 (L76F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494563	NM_005582.3(CD180):c.706T>A (p.Ser236Thr)	CD180 (S236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489362	NM_005582.3(CD180):c.155C>T (p.Pro52Leu)	CD180 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471372	NM_005582.3(CD180):c.1414C>T (p.Arg472Trp)	CD180 (R472W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455940	NM_005582.3(CD180):c.554T>C (p.Ile185Thr)	CD180 (I185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389999	NM_005582.3(CD180):c.1090G>A (p.Gly364Ser)	CD180 (G364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370445	NM_005582.3(CD180):c.427A>T (p.Ile143Phe)	CD180 (I143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364104	NM_005582.3(CD180):c.800T>C (p.Met267Thr)	CD180 (M267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356735	NM_005582.3(CD180):c.692G>A (p.Gly231Glu)	CD180 (G231E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343491	NM_005582.3(CD180):c.517C>T (p.Arg173Trp)	CD180 (R173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331058	NM_005582.3(CD180):c.719A>G (p.Asn240Ser)	CD180 (N240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306272	NM_005582.3(CD180):c.459C>G (p.Ser153Arg)	CD180 (S153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280703	NM_005582.3(CD180):c.1243G>T (p.Ala415Ser)	CD180 (A415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270297	NM_005582.3(CD180):c.1043C>T (p.Thr348Ile)	CD180 (T348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809002	GRCh37/hg19 5q12.3-13.1(chr5:66424994-66710524)x3	CD180, MAST4	Copy number gain	not provided	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1340962	GRCh37/hg19 5q12.3-13.1(chr5:65936855-66783546)x3	CD180, MAST4	Copy number gain	not provided	GUncertain significance
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 787819	NM_005582.3(CD180):c.1288A>G (p.Thr430Ala)	CD180 (T430A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782700	NM_005582.3(CD180):c.1194G>A (p.Leu398=)	CD180	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 757510	NM_005582.3(CD180):c.666G>C (p.Thr222=)	CD180	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725877	NM_005582.3(CD180):c.666G>A (p.Thr222=)	CD180	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725876	NM_005582.3(CD180):c.1806G>A (p.Ser602=)	CD180	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709971	NM_005582.3(CD180):c.1752G>A (p.Ser584=)	CD180	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 443600	GRCh37/hg19 5q12.3-13.1(chr5:66317221-66855702)x3	CD180, MAST4	Copy number gain	See cases	GUncertain significance
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 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
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 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153286	GRCh38/hg38 5q12.3-13.1(chr5:66201296-68094987)x1	CD180, LINC02065 +38 more	Copy number loss	See cases	GUncertain significance
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 72