SPAM1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	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
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 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 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 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
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 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 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 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
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 3168122	NM_153189.3(SPAM1):c.374A>T (p.Asp125Val)	SPAM1 (D125V)	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 3168124	NM_153189.3(SPAM1):c.454C>A (p.Pro152Thr)	SPAM1 (P152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2359974	NM_153189.3(SPAM1):c.628C>A (p.Leu210Ile)	SPAM1 (L210I)	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 2295458	NM_153189.3(SPAM1):c.833T>C (p.Val278Ala)	SPAM1 (V278A)	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 3168125	NM_153189.3(SPAM1):c.896C>T (p.Pro299Leu)	SPAM1 (P299L)	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 2373812	NM_153189.3(SPAM1):c.913C>T (p.Arg305Cys)	SPAM1 (R305C)	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 2536088	NM_153189.3(SPAM1):c.997G>T (p.Ala333Ser)	SPAM1 (A333S)	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 3321812	NM_153189.3(SPAM1):c.1032A>G (p.Ile344Met)	SPAM1 (I344M)	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 2330315	NM_153189.3(SPAM1):c.1285T>C (p.Phe429Leu)	SPAM1 (F429L)	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 3168120	NM_153189.3(SPAM1):c.1372T>C (p.Cys458Arg)	SPAM1 (C458R)	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 2479078	NM_153189.3(SPAM1):c.1419G>A (p.Met473Ile)	SPAM1 (M473I)	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 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 52