7809[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 736086	NM_002507.4(NGFR):c.67-4C>T	NGFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2471107	NM_002507.4(NGFR):c.79G>T (p.Gly27Cys)	NGFR (G27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318946	NM_002507.4(NGFR):c.179A>G (p.Asn60Ser)	NGFR (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746630	NM_002507.4(NGFR):c.318G>A (p.Val106=)	NGFR, NGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2325706	NM_002507.4(NGFR):c.328G>T (p.Ala110Ser)	NGFR, NGFR-AS1 (A110S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 717409	NM_002507.4(NGFR):c.333C>T (p.Tyr111=)	NGFR, NGFR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2402722	NM_002507.4(NGFR):c.348T>A (p.Asp116Glu)	NGFR, NGFR-AS1 (D116E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381148	NM_002507.4(NGFR):c.385G>A (p.Glu129Lys)	NGFR, NGFR-AS1 (E129K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 724414	NM_002507.4(NGFR):c.395C>T (p.Ser132Leu)	NGFR, NGFR-AS1 (S132L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2254360	NM_002507.4(NGFR):c.410C>G (p.Ser137Cys)	NGFR, NGFR-AS1 (S137C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2296521	NM_002507.4(NGFR):c.514G>C (p.Asp172His)	NGFR, NGFR-AS1 (D172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199183	NM_002507.4(NGFR):c.533G>T (p.Arg178Leu)	NGFR, NGFR-AS1 (R178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321006	NM_002507.4(NGFR):c.544C>T (p.Arg182Cys)	NGFR, NGFR-AS1 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469075	NM_002507.4(NGFR):c.553G>A (p.Asp185Asn)	NGFR, NGFR-AS1 (D185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320093	NM_002507.4(NGFR):c.565G>C (p.Glu189Gln)	NGFR, NGFR-AS1 (E189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741401	NM_002507.4(NGFR):c.568+9G>A	NGFR, NGFR-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2522454	NM_002507.4(NGFR):c.592C>T (p.Arg198Trp)	NGFR, NGFR-AS1 (R198W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380184	NM_002507.4(NGFR):c.601C>G (p.Pro201Ala)	NGFR, NGFR-AS1 (P201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484675	NM_002507.4(NGFR):c.628C>T (p.Pro210Ser)	NGFR, NGFR-AS1 (P210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739779	NM_002507.4(NGFR):c.630C>T (p.Pro210=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302837	NM_002507.4(NGFR):c.635C>A (p.Thr212Asn)	NGFR, NGFR-AS1 (T212N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323035	NM_002507.4(NGFR):c.734G>A (p.Arg245Gln)	NGFR, NGFR-AS1 (R245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546751	NM_002507.4(NGFR):c.752T>C (p.Leu251Pro)	NGFR, NGFR-AS1 (L251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709492	NM_002507.4(NGFR):c.822-10C>G	NGFR, NGFR-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3199209	NM_002507.4(NGFR):c.862C>T (p.Arg288Trp)	NGFR, NGFR-AS1 (R288W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778131	NM_002507.4(NGFR):c.879G>A (p.Thr293=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599881	NM_002507.4(NGFR):c.892G>A (p.Gly298Arg)	NGFR, NGFR-AS1 (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247548	NM_002507.4(NGFR):c.892G>C (p.Gly298Arg)	NGFR, NGFR-AS1 (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318967	NM_002507.4(NGFR):c.989A>G (p.Lys330Arg)	NGFR, NGFR-AS1 (K330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717336	NM_002507.4(NGFR):c.1089G>A (p.Ala363=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736413	NM_002507.4(NGFR):c.1092C>T (p.Gly364=)	NGFR-AS1, NGFR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589198	NM_002507.4(NGFR):c.1151G>A (p.Arg384His)	NGFR, NGFR-AS1 (R384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351700	NM_002507.4(NGFR):c.1184G>C (p.Ser395Thr)	NGFR, NGFR-AS1 (S395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790429	NM_002507.4(NGFR):c.1185C>T (p.Ser395=)	NGFR, NGFR-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2607454	NM_002507.4(NGFR):c.1197C>G (p.Asp399Glu)	NGFR, NGFR-AS1 (D399E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382150	NM_002507.4(NGFR):c.1198G>A (p.Ala400Thr)	NGFR, NGFR-AS1 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 48