5147[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 150419	GRCh38/hg38 12q24.31(chr12:121802243-122229509)x3	B3GNT4, BCL7A +57 more	Copy number gain	See cases	GUncertain significance
Select item 882570	NM_002150.2(HPD):c.*202T>A	HPD, LOC130009013	Single nucleotide variant	Hawkinsinuria +1 more	GUncertain significance
Select item 307477	NM_002150.3(HPD):c.*191C>T	HPD, LOC130009013	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type III +1 more	GUncertain significance
Select item 882571	NM_002150.3(HPD):c.*190G>T	HPD, LOC130009013	Single nucleotide variant (3 prime UTR variant)	Tyrosinemia type III +1 more	GUncertain significance
Select item 883352	NM_002150.3(HPD):c.*82T>C	HPD, LOC130009013	Single nucleotide variant (3 prime UTR variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 883353	NM_002150.3(HPD):c.*69C>T	HPD, LOC130009013	Single nucleotide variant (3 prime UTR variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 883354	NM_002150.3(HPD):c.*65A>G	HPD, LOC130009013	Single nucleotide variant (3 prime UTR variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 529471	NC_000012.12:g.(?_121839708)_(121840068_?)del	HPD	Deletion	Hawkinsinuria +1 more	GUncertain significance
Select item 2926451	NM_002150.3(HPD):c.1176C>T (p.Gly392=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2933995	NM_002150.3(HPD):c.1173C>G (p.Pro391=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 883355	NM_002150.3(HPD):c.1165G>C (p.Val389Leu)	HPD (V389L +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 2931083	NM_002150.3(HPD):c.1164G>A (p.Gly388=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 937138	NM_002150.3(HPD):c.1159A>G (p.Asn387Asp)	HPD (N387D +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 2946304	NM_002150.3(HPD):c.1155G>A (p.Glu385=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 529466	NM_002150.3(HPD):c.1151del (p.Met384fs)	HPD (M384fs +1 more)	Deletion (frameshift variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 2926954	NM_002150.3(HPD):c.1134G>A (p.Arg378=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 1423977	NM_002150.3(HPD):c.1133G>C (p.Arg378Pro)	HPD (R378P +1 more)	Single nucleotide variant (missense variant)	Tyrosinemia type III +1 more	GUncertain significance
Select item 2643488	NM_002150.3(HPD):c.1122G>A (p.Glu374=)	HPD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936108	NM_002150.3(HPD):c.1121A>T (p.Glu374Val)	HPD (E335V +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 638895	NM_002150.3(HPD):c.1120G>A (p.Glu374Lys)	HPD (E374K +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 1539137	NM_002150.3(HPD):c.1116G>A (p.Glu372=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 880987	NM_002150.3(HPD):c.1108G>A (p.Ala370Thr)	HPD (A331T +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GConflicting classifications of pathogenicity
Select item 1061349	NM_002150.3(HPD):c.1106A>G (p.Lys369Arg)	HPD (K330R +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 2478968	NM_002150.3(HPD):c.1104C>A (p.Phe368Leu)	HPD (F368L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2931560	NM_002150.3(HPD):c.1098A>G (p.Ser366=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 1358385	NM_002150.3(HPD):c.1097C>A (p.Ser366Ter)	HPD (S366* +1 more)	Single nucleotide variant (nonsense)	Hawkinsinuria +1 more	GUncertain significance
Select item 1961869	NM_002150.3(HPD):c.1092C>A (p.Phe364Leu)	HPD (F325L +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 2933397	NM_002150.3(HPD):c.1086C>A (p.Gly362=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2952116	NM_002150.3(HPD):c.1083C>G (p.Ala361=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2932509	NM_002150.3(HPD):c.1077T>C (p.Phe359=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937779	NM_002150.3(HPD):c.1072-4A>G	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2937411	NM_002150.3(HPD):c.1072-7G>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2934394	NM_002150.3(HPD):c.1072-18CT[2]	HPD	Microsatellite (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2941644	NM_002150.3(HPD):c.1072-16C>G	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2923988	NM_002150.3(HPD):c.1072-18_1072-16del	HPD	Microsatellite (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2944719	NM_002150.3(HPD):c.1071+15C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 1964671	NM_002150.3(HPD):c.1071+15del	HPD	Deletion (intron variant)	Hawkinsinuria +1 more	GBenign
Select item 2945648	NM_002150.3(HPD):c.1071+13C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2947545	NM_002150.3(HPD):c.1071+12C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 1588656	NM_002150.3(HPD):c.1071+10G>A	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2440743	NM_002150.3(HPD):c.1067del (p.His356fs)	HPD (H317fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2285506	NM_002150.3(HPD):c.1067A>T (p.His356Leu)	HPD (H356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880988	NM_002150.3(HPD):c.1061A>G (p.His354Arg)	HPD (H315R +1 more)	Single nucleotide variant (missense variant)	Tyrosinemia type III +1 more	GUncertain significance
Select item 812775	NM_002150.3(HPD):c.1049T>C (p.Val350Ala)	HPD (V350A +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GLikely pathogenic
Select item 721638	NM_002150.3(HPD):c.1038C>T (p.Leu346=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2937485	NM_002150.3(HPD):c.1032C>T (p.Pro344=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2932104	NM_002150.3(HPD):c.1032C>A (p.Pro344=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2935879	NM_002150.3(HPD):c.1029G>A (p.Arg343=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2936776	NM_002150.3(HPD):c.1026C>T (p.Asp342=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2951587	NM_002150.3(HPD):c.1023G>A (p.Gln341=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 307478	NM_002150.3(HPD):c.1018G>T (p.Val340Leu)	HPD (V301L +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +2 more	GBenign
Select item 2929801	NM_002150.3(HPD):c.1017G>A (p.Pro339=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 961805	NM_002150.3(HPD):c.1016C>G (p.Pro339Arg)	HPD (P339R +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 2943779	NM_002150.3(HPD):c.1005C>A (p.Ile335=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 1576	NM_002150.3(HPD):c.1005C>G (p.Ile335Met)	HPD (I335M +1 more)	Single nucleotide variant (missense variant)	Tyrosinemia type III +4 more	GConflicting classifications of pathogenicity
Select item 2937801	NM_002150.3(HPD):c.993C>T (p.Tyr331=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2941168	NM_002150.3(HPD):c.987A>G (p.Lys329=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 1331493	NM_002150.3(HPD):c.978C>G (p.Tyr326Ter)	HPD (Y287* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 750545	NM_002150.3(HPD):c.978C>T (p.Tyr326=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 733185	NM_002150.3(HPD):c.972G>A (p.Val324=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 727104	NM_002150.3(HPD):c.966C>A (p.Ile322=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2947147	NM_002150.3(HPD):c.957G>A (p.Glu319=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2930430	NM_002150.3(HPD):c.955-4C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2929348	NM_002150.3(HPD):c.955-6G>T	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2927355	NM_002150.3(HPD):c.955-7C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 719449	NM_002150.3(HPD):c.955-7C>G	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2930845	NM_002150.3(HPD):c.955-11C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2925182	NM_002150.3(HPD):c.955-15_955-14del	HPD	Deletion (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2923123	NM_002150.3(HPD):c.955-14del	HPD	Deletion (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2936058	NM_002150.3(HPD):c.955-19C>A	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 1182186	NM_002150.3(HPD):c.954+41T>C	HPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2927574	NM_002150.3(HPD):c.954+20C>T	HPD	Single nucleotide variant (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 529472	NC_000012.12:g.(?_121843690)_(121847234_?)del	HPD	Deletion	Tyrosinemia type III +1 more	GPathogenic
Select item 2950658	NM_002150.3(HPD):c.954+17A>T	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GLikely benign
Select item 307479	NM_002150.3(HPD):c.954+14A>C	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GConflicting classifications of pathogenicity
Select item 2945860	NM_002150.3(HPD):c.954+9del	HPD	Deletion (intron variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 1037253	NM_002150.3(HPD):c.954+5G>A	HPD	Single nucleotide variant (intron variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 2947695	NM_002150.3(HPD):c.949C>T (p.Leu317=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 2950711	NM_002150.3(HPD):c.945T>C (p.Asp315=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2925938	NM_002150.3(HPD):c.942T>C (p.Ile314=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 971764	NM_002150.3(HPD):c.941T>C (p.Ile314Thr)	HPD (I275T +1 more)	Single nucleotide variant (missense variant)	Tyrosinemia type III +1 more	GUncertain significance
Select item 882351	NM_002150.3(HPD):c.915G>A (p.Thr305=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GConflicting classifications of pathogenicity
Select item 307480	NM_002150.3(HPD):c.914C>T (p.Thr305Met)	HPD (T266M +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +2 more	GUncertain significance
Select item 2928362	NM_002150.3(HPD):c.906G>A (p.Lys302=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 2166189	NM_002150.3(HPD):c.899G>A (p.Arg300Gln)	HPD (R261Q +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +1 more	GUncertain significance
Select item 846837	NM_002150.3(HPD):c.898C>T (p.Arg300Trp)	HPD (R261W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 712611	NM_002150.3(HPD):c.898C>A (p.Arg300=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign
Select item 307481	NM_002150.3(HPD):c.895C>T (p.Leu299=)	HPD	Single nucleotide variant (synonymous variant)	HPD-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2945384	NM_002150.3(HPD):c.882G>T (p.Thr294=)	HPD	Single nucleotide variant (synonymous variant)	Tyrosinemia type III +1 more	GLikely benign
Select item 744291	NM_002150.3(HPD):c.882G>A (p.Thr294=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +1 more	GLikely benign

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