NFAM1[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 154845	GRCh38/hg38 22q13.2(chr22:42366219-42565801)x1	LINC01315, LOC101927344 +19 more	Copy number loss	See cases	GLikely benign
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 787508	NM_145912.8(NFAM1):c.793C>T (p.Leu265=)	NFAM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 711090	NM_145912.8(NFAM1):c.782G>C (p.Gly261Ala)	NFAM1 (G261A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2401350	NM_145912.8(NFAM1):c.761C>T (p.Pro254Leu)	NFAM1 (P202L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2321795	NM_145912.8(NFAM1):c.703G>A (p.Glu235Lys)	NFAM1 (R197Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299455	NM_145912.8(NFAM1):c.685G>A (p.Glu229Lys)	NFAM1 (E177K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195890	NM_145912.8(NFAM1):c.677G>A (p.Arg226His)	NFAM1 (R226H +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3195886	NM_145912.8(NFAM1):c.622G>T (p.Ala208Ser)	NFAM1 (A156S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481090	NM_145912.8(NFAM1):c.575G>A (p.Arg192Gln)	NFAM1 (R140Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3299453	NM_145912.8(NFAM1):c.574C>T (p.Arg192Trp)	NFAM1 (R192W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550234	NM_145912.8(NFAM1):c.569G>A (p.Arg190Gln)	NFAM1 (R190Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 777728	NM_145912.8(NFAM1):c.561C>G (p.Asn187Lys)	NFAM1 (N135K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3299452	NM_145912.8(NFAM1):c.542C>T (p.Thr181Met)	NFAM1 (T129M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769482	NM_145912.8(NFAM1):c.474G>A (p.Pro158=)	NFAM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2247367	NM_145912.8(NFAM1):c.473C>T (p.Pro158Leu)	NFAM1 (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195867	NM_145912.8(NFAM1):c.416C>T (p.Thr139Met)	NFAM1 (T139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709526	NM_145912.8(NFAM1):c.409C>T (p.His137Tyr)	NFAM1 (H85Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3195863	NM_145912.8(NFAM1):c.401A>G (p.His134Arg)	NFAM1 (H82R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3195859	NM_145912.8(NFAM1):c.298C>A (p.His100Asn)	NFAM1 (H48N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533225	NM_145912.8(NFAM1):c.275G>A (p.Ser92Asn)	NFAM1 (S92N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406635	NM_145912.8(NFAM1):c.266G>A (p.Gly89Glu)	NFAM1 (G37E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301503	NM_145912.8(NFAM1):c.251A>T (p.His84Leu)	NFAM1 (H84L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341131	NM_145912.8(NFAM1):c.181A>G (p.Ile61Val)	NFAM1 (I9V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247205	NM_145912.8(NFAM1):c.103G>A (p.Gly35Arg)	NFAM1 (G35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195897	NM_145912.8(NFAM1):c.88G>A (p.Val30Met)	NFAM1 (V30M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593254	NM_145912.8(NFAM1):c.50C>T (p.Pro17Leu)	NFAM1 (P17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344171	NM_145912.8(NFAM1):c.47G>A (p.Arg16His)	NFAM1 (R16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235156	NM_145912.8(NFAM1):c.25C>T (p.Arg9Trp)	NFAM1 (R9W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195840	NM_145912.8(NFAM1):c.20G>A (p.Arg7Lys)	NFAM1 (R7K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 3248111	NC_000022.10:g.(?_42564659)_(43089957_?)dup	POLDIP3, A4GALT +6 more	Duplication	not provided	GUncertain significance
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 1809005	GRCh37/hg19 22q13.2(chr22:42603838-42942949)x3	NFAM1, RRP7A +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808907	GRCh37/hg19 22q13.2(chr22:42765874-43059475)x3	ATP5MGL, CYB5R3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1341215	GRCh37/hg19 22q13.2(chr22:42718218-42918339)x1	NFAM1, RRP7A	Copy number loss	not provided	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685140	GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3	A4GALT, ARFGAP3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 67