ClinVar for Gene (Select 6677) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321817	NM_153189.3(SPAM1):c.627A>C (p.Leu209Phe)	SPAM1 (L209F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321816	NM_153189.3(SPAM1):c.167C>G (p.Pro56Arg)	SPAM1 (P56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321813	NM_153189.3(SPAM1):c.239G>A (p.Arg80Gln)	SPAM1 (R80Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321812	NM_153189.3(SPAM1):c.1032A>G (p.Ile344Met)	SPAM1 (I344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321811	NM_153189.3(SPAM1):c.1342G>A (p.Asp448Asn)	SPAM1 (D448N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168126	NM_153189.3(SPAM1):c.914G>A (p.Arg305His)	SPAM1 (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168125	NM_153189.3(SPAM1):c.896C>T (p.Pro299Leu)	SPAM1 (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168124	NM_153189.3(SPAM1):c.454C>A (p.Pro152Thr)	SPAM1 (P152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168123	NM_153189.3(SPAM1):c.421G>A (p.Gly141Arg)	SPAM1 (G141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168122	NM_153189.3(SPAM1):c.374A>T (p.Asp125Val)	SPAM1 (D125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168121	NM_153189.3(SPAM1):c.1479G>C (p.Met493Ile)	SPAM1 (M493I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168120	NM_153189.3(SPAM1):c.1372T>C (p.Cys458Arg)	SPAM1 (C458R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2536088	NM_153189.3(SPAM1):c.997G>T (p.Ala333Ser)	SPAM1 (A333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517236	NM_153189.3(SPAM1):c.1112T>C (p.Leu371Pro)	SPAM1 (L371P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479078	NM_153189.3(SPAM1):c.1419G>A (p.Met473Ile)	SPAM1 (M473I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462467	NM_153189.3(SPAM1):c.873A>G (p.Ile291Met)	SPAM1 (I291M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407628	NM_153189.3(SPAM1):c.911C>T (p.Thr304Ile)	SPAM1 (T304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382111	NM_153189.3(SPAM1):c.811C>T (p.Pro271Ser)	SPAM1 (P271S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373812	NM_153189.3(SPAM1):c.913C>T (p.Arg305Cys)	SPAM1 (R305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368925	NM_153189.3(SPAM1):c.998C>T (p.Ala333Val)	SPAM1 (A333V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359974	NM_153189.3(SPAM1):c.628C>A (p.Leu210Ile)	SPAM1 (L210I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330315	NM_153189.3(SPAM1):c.1285T>C (p.Phe429Leu)	SPAM1 (F429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295458	NM_153189.3(SPAM1):c.833T>C (p.Val278Ala)	SPAM1 (V278A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284125	NM_153189.3(SPAM1):c.1379C>T (p.Ala460Val)	SPAM1 (A460V)	Single nucleotide variant (missense variant)	not specified	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 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 815029	GRCh37/hg19 7q31.32(chr7:122637357-123574829)x3	SPAM1, HYAL4 +6 more	Copy number gain	not provided	GLikely benign
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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	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 563379	GRCh37/hg19 7q31.32-31.33(chr7:122943743-123804763)x3	LMOD2, IQUB +6 more	Copy number gain	not provided	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
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 155415	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124171626)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 155209	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124164709)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 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 144923	GRCh38/hg38 7q31.32-31.33(chr7:123319393-124170657)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 52