ClinVar for Gene (Select 51384) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2620438	NM_057168.2(WNT16):c.283A>G (p.Thr95Ala)	WNT16 (T95A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2550499	NM_057168.2(WNT16):c.598G>A (p.Ala200Thr)	WNT16 (A190T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539995	NM_057168.2(WNT16):c.802C>T (p.Arg268Cys)	WNT16 (R268C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534991	NM_057168.2(WNT16):c.736G>A (p.Gly246Ser)	WNT16 (G246S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514402	NM_057168.2(WNT16):c.568A>T (p.Thr190Ser)	WNT16 (T180S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483843	NM_057168.2(WNT16):c.757T>C (p.Tyr253His)	WNT16 (Y243H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409064	NM_057168.2(WNT16):c.863A>G (p.Asn288Ser)	WNT16 (N278S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386359	NM_057168.2(WNT16):c.682G>A (p.Gly228Ser)	WNT16 (G228S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363304	NM_057168.2(WNT16):c.261C>G (p.His87Gln)	WNT16 (H87Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315607	NM_057168.2(WNT16):c.878A>C (p.Tyr293Ser)	WNT16 (Y283S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300297	NM_057168.2(WNT16):c.1009G>A (p.Val337Met)	WNT16 (V337M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287797	NM_057168.2(WNT16):c.266G>A (p.Arg89Lys)	WNT16 (R79K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216664	NM_057168.2(WNT16):c.190C>T (p.Pro64Ser)	WNT16 (P64S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1340117	GRCh37/hg19 7q31.31(chr7:120813156-121033289)x1	CPED1, FAM3C +1 more	Copy number loss	not provided	GUncertain significance
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	POT1, PTPRZ1 +35 more	Copy number loss	Short stature +2 more	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 781654	NM_057168.2(WNT16):c.300C>A (p.Thr100=)	WNT16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773396	NM_057168.2(WNT16):c.778T>C (p.Ser260Pro)	WNT16 (S250P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689142	GRCh37/hg19 7q31.31(chr7:120818380-121033193)x1	CPED1, FAM3C +1 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442628	GRCh37/hg19 7q31.31(chr7:120864414-121086762)x1	CPED1, FAM3C +1 more	Copy number loss	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 38