Related gene-specific medical variations for Gene (Select 3188) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284568	NM_019597.5(HNRNPH2):c.1109G>C (p.Gly370Ala)	HNRNPH2, RPL36A-HNRNPH2 (G370A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3252297	NM_019597.5(HNRNPH2):c.698G>A (p.Arg233His)	HNRNPH2, RPL36A-HNRNPH2 (R233H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3238802	NM_019597.5(HNRNPH2):c.1195G>A (p.Gly399Arg)	HNRNPH2, RPL36A-HNRNPH2 (G399R)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GUncertain significance
Select item 3106410	NM_019597.5(HNRNPH2):c.662G>T (p.Ser221Ile)	HNRNPH2, RPL36A-HNRNPH2 (S221I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3046936	NM_019597.5(HNRNPH2):c.1170C>T (p.Gly390=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	HNRNPH2-related disorder	GLikely benign
Select item 3046575	NM_019597.5(HNRNPH2):c.48G>A (p.Arg16=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	HNRNPH2-related disorder	GLikely benign
Select item 3027414	NM_019597.5(HNRNPH2):c.639G>A (p.Pro213=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2692571	NM_019597.5(HNRNPH2):c.476T>A (p.Phe159Tyr)	HNRNPH2, RPL36A-HNRNPH2 (F159Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2661061	NM_019597.5(HNRNPH2):c.1077C>T (p.Leu359=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661060	NM_019597.5(HNRNPH2):c.15G>A (p.Thr5=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2577964	NM_019597.5(HNRNPH2):c.636G>T (p.Arg212Ser)	HNRNPH2, RPL36A-HNRNPH2 (R212S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2536124	NM_019597.5(HNRNPH2):c.604A>C (p.Met202Leu)	HNRNPH2, RPL36A-HNRNPH2 (M202L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521880	NM_019597.5(HNRNPH2):c.1291A>G (p.Ser431Gly)	HNRNPH2, RPL36A-HNRNPH2 (S431G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2432515	NM_019597.5(HNRNPH2):c.737A>G (p.Tyr246Cys)	HNRNPH2, RPL36A-HNRNPH2 (Y246C)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GUncertain significance
Select item 2177421	NM_019597.5(HNRNPH2):c.-54+157G>C	GLA, HNRNPH2 +1 more	Single nucleotide variant (intron variant)	Fabry disease	GUncertain significance
Select item 1708226	NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)	HNRNPH2, RPL36A-HNRNPH2 (E154fs)	Deletion (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GLikely pathogenic
Select item 1708044	NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)	HNRNPH2, RPL36A-HNRNPH2 (Q205*)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GLikely pathogenic
Select item 1698089	NM_019597.5(HNRNPH2):c.709G>A (p.Gly237Ser)	HNRNPH2, RPL36A-HNRNPH2 (G237S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1335785	NM_019597.5(HNRNPH2):c.816T>C (p.Ser272=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1310792	NM_019597.5(HNRNPH2):c.464C>G (p.Ala155Gly)	HNRNPH2, RPL36A-HNRNPH2 (A155G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1306179	NM_019597.5(HNRNPH2):c.1010C>T (p.Thr337Ile)	HNRNPH2, RPL36A-HNRNPH2 (T337I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1301225	NM_019597.5(HNRNPH2):c.638C>T (p.Pro213Leu)	HNRNPH2, RPL36A-HNRNPH2 (P213L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1285350	NM_019597.5(HNRNPH2):c.1320C>T (p.Asn440=)	RPL36A-HNRNPH2, HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GBenign
Select item 1167953	NM_019597.5(HNRNPH2):c.-54+353C>G	GLA, HNRNPH2 +1 more	Single nucleotide variant (intron variant)	Fabry disease	GBenign
Select item 1098285	NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp)	HNRNPH2, RPL36A-HNRNPH2 (R114W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 1049638	NM_019597.5(HNRNPH2):c.769T>A (p.Ser257Thr)	HNRNPH2, RPL36A-HNRNPH2 (S257T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1009590	NM_019597.5(HNRNPH2):c.1019A>T (p.Asp340Val)	RPL36A-HNRNPH2, HNRNPH2 (D340V)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type +1 more	GUncertain significance
Select item 984808	NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr)	HNRNPH2, RPL36A-HNRNPH2 (R212T)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GLikely pathogenic
Select item 859491	NM_019597.5(HNRNPH2):c.959_964del (p.Glu320_Ile321del)	RPL36A-HNRNPH2, HNRNPH2	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 807430	NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys)	HNRNPH2, RPL36A-HNRNPH2 (R29C)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type	GLikely pathogenic
Select item 797088	NM_019597.5(HNRNPH2):c.138C>A (p.Ile46=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 736844	NM_019597.5(HNRNPH2):c.969C>T (p.Pro323=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 727820	NM_019597.5(HNRNPH2):c.1068T>C (p.Tyr356=)	HNRNPH2, RPL36A-HNRNPH2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 521005	NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys)	HNRNPH2, RPL36A-HNRNPH2 (Y210C)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, X-linked, syndromic, Bain type +2 more	GConflicting classifications of pathogenicity
Select item 451161	NM_019597.5(HNRNPH2):c.573del (p.Arg192fs)	HNRNPH2, RPL36A-HNRNPH2 (R192fs)	Deletion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 432251	NM_019597.5(HNRNPH2):c.1171G>A (p.Ala391Thr)	HNRNPH2, RPL36A-HNRNPH2 (A391T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 225761	NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)	HNRNPH2, RPL36A-HNRNPH2 (R206Q)	Single nucleotide variant (3 prime UTR variant +1 more)	HNRNPH2-related disorder +2 more	GPathogenic
Select item 225760	NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)	RPL36A-HNRNPH2, HNRNPH2 (R206W)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 225759	NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu)	HNRNPH2, RPL36A-HNRNPH2 (P209L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic

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Items: 39